Lysomal Storage Disorder
Die Königsboa
M. Pompe
Morbus Pompe (auch Glykogenose II oder AMD (Acid maltase deficiency) genannt) ist eine seltene, erbliche Stoffwechselerkrankung, bei der es aufgrund eines Mangels des Enzyms saure Glukosidase zu einer fortschreitenden Speicherung von Glykogen kommt. Ein völliges Fehlen dieses Enzyms führt bereits in den ersten Lebensmonaten zu einer ausgeprägten Kardiomyopathie sowie Muskel- und Trinkschwäche. Die Kinder sterben unbehandelt im 1. Lebensjahr. Bei vorhandener Restaktivität kommt es zu einem milderen Verlauf mit zunehmender Muskelschwäche und/oder Atemschwäche im Jugend- und Erwachsenenalter. Blutuntersuchungen zeigen eine erhöhte Aktivität der Kreatininkinase (CK) und der Leber-Enzyme.
Synonym: Glykogenose Typ II
Ätiologie: Defizienz der sauren alpha-1,4-Glukosidase
Gen: GAA-Gen
Vererbungsmodus: Autosomal-rezessiv
Phänotypen
- Infantile Form
- Late-onset Form
Leitsymptome
Infantile Form
(Manifestationsalter in den ersten Lebensmonaten)
- Kardiomyopathie
- Muskelhypotonie „floppy infant“
- Ateminsuffizienz
- Motorische Entwicklungsverzögerung/-stillstand
Late-onset Form
(Manifestationsalter variabel, Kindes- bis Erwachsenenalter)
- Progrediente proximale Muskelschwäche
- Zwerchfellschwäche
- Ateminsuffizienz
- Schlafapnoe
Diagnostik
Messung der α-Glucosidase
- Elegant im Trockenblut
- Traditionell in Lymphozyten – EDTA-Blut – Probenhandling und Probenversand fehleranfällig
- Ergebnis kann durch eine Reihe von Faktoren falsch positiv / falsch negativ sein – Unterscheidung zu Heterozygoten gelegentlich schwierig
- Immer einen spezifischen Parameter zur Bestätigung mituntersuchen
Screeningparameter
- CK-Erhöhung, Myoglobinerhöhung: unspezifisch, aber sensitiv
- Gluc4 – Tetrasaccharid im Urin – weder sensitiv noch spezifisch
- PAS-Färbung des Glykogen in Lymphozyten – gute Screeningmethode, aber relativ aufwändig
Leitbefunde
- Isolierte CK-Erhöhung - Zufallsbefund
- Proximale Muskelschwäsche: Standbild mit Hyperlordose und scheinbar vorgewölbten Bauch, Trendelenburg Gang, Schwäche im Hüftgürtel
- Schwäche der Atemmuskulatur, Zwerchfellschwäche, Atemnot im Liegen
Genetischer Befund
- Achtung komplexe Befunde bei intronischen Mutationen – erfahrenes Labor!
- Regelmäßig Mutationen, die mit Sangersequenzierung alleine nicht gefunden werden.
- Erklärt der Genotyp den Phänotyp? Bitte überprüfen!
Therapie
Alglucosidase alfa (Myozyme®)
Current Studies
Mucopolysaccharidosis
DNLI-E-0007
A Study to Determine the Efficacy and Safety of Tividenofusp Alfa (DNL310) vs Idursulfase in Pediatric and Young Adult Participants
with Neuronopathic or Non-Neuronopathic Mucopolysaccharidosis Type II.
Age
≥ 2 to <26 years
Status active
Patient admission recruiting
Institution SphinCS GmbH
Drug trial
Lysosomal Acid Lipase Disease
ALX LALD Register
An Observational Disease and Clinical Outcomes Registry of Patients with Lysosomal Acid Lipase (LAL) Deficiency
Age
No age limit
Status active
Patient admission recruiting
Institution SphinCS GmbH
Natural-History-Study
M. Niemann-Pick Typ C
CTD-TCNPC-301
A Phase 3, Double-blind, Randomized, Placebo-controlled, Parallel-group, Multicenter Study to Evaluate the Safety , Tolerability, and Efficacy of ( 2000 mg/kg) of Trappsol® Cyclo ™(Hydroxypropyl-β-cyclodextrin) and Standard of Care Compared to Placebo and Standard of Care in Patients with Niemann-Pick Disease Type C1
Age
without age restriction
Status active
Patient admission closed
Institution SphinCS GmbH
Drug trial
Fabry Disease
Modify
A multicenter, double-blind, randomized, placebo-controlled, parallel-group study to determine the efficacy and safety of Lucerastat oral monotherapy in adult subjects with Fabry Disease
Age
> 18 Years
Status active
Patient admission closed
Institution SphinCS GmbH
Drug trial
ASMD
PIR 16813
A prospective and retrospective cohort study to refine and expand the knowledge on patients with chronic forms of ASMD
Age
No age limit
Status inactive
Patient admission closed
Institution SphinCS GmbH
Natural-History-Study
GM1-Gangliosidosis
GM2-Gangliosidosis
Gangliosidosis „8 in 1“
This is a retrospective and prospective and longitudinal, non-interventional study on the natural course of gangliosidoseovers over 5 years
Age
No age limit
Status active
Patient admission recruiting
Institution SphinCS Lyso gemeinnützige UG (haftungsbeschränkt)
Register-Study
ASMD
M. Niemann-Pick Typ C
INPDR-NP registry
International Niemann-Pick Disease Registry – An International Rare Disease Registry for
Niemann-Pick Disease Type A, B or C.
Age
No age limit
Status active
Patient admission recruiting
Institution SphinCS Lyso gemeinnützige UG (haftungsbeschränkt)
Register-Study
M. Niemann-Pick Typ C
CT-ORZY-NPC-002
Arimoclomol prospective double-blind, randomised,
placebo-controlled study in patients diagnosed with
Niemann-Pick disease type C
Age
6 - 23 Month
Status active
Patient admission closed
Institution SphinCS GmbH
Drug trial
M. Niemann-Pick Typ C
IB1001-301
Effects of N-Acetyl-L-Leucine on Niemann-Pick disease type C (NPC): A Phase III,
randomized, placebo-controlled, double-blind, crossover study
Age
From 4 years ago
Status active
Patient admission closed
Institution SphinCS GmbH
Drug trial
Gaucher Disease
Prevail J3Z-MC-OJAE
An Open-label, Dose-Finding, Phase 1/2 Study to Evaluate the Safety and Tolerability of a Single Intravenous Dose of LY3884961 in Patients with Peripheral Manifestations of Gaucher Disease
Age
18-65 years
Status active
Patient admission recruiting
Institution SphinCS GmbH
Drug trial
Mucopolysaccharidosis
JR-141-GS31
A Phase III study of JR-141 in Mucopolysaccharidosis type II(Hunter Syndrome) patients
Age
from 36 months
Status active
Patient admission recruiting
Institution SphinCS GmbH
Drug trial
Pompe Disease
Amicus-ATB200-08
An open-label study to evaluate the safety, pharmacokinetics, efficacy, pharmacodynamics and immunogenetics of cipaglucosidase alfa/miglustat in both ERT experienced and ERT-naive pediatric subjects with infantile-onset pompe disease
Age
0-18 years
Status active
Patient admission recruiting
Institution SphinCS GmbH
Drug trial
Pompe Disease
Amicus-ATB200-04
An open-label study of the safety, pharmacokinetics, efficacy, pharmacodynamics and immunogenetics of ATB200/AT2221 in pediatric subjects with pompe disease
Age
0 >18 years
Status active
Patient admission recruiting
Institution SphinCS GmbH
Drug trial
Fabry Disease
PERIDOT_EFC17045
A randomized double-blind, placebo-controlled, 12-month phase 3 study to evaluate the effect of Venglustat on neuropathic and abdominal pain in male and female adults with Fabry disease who are treatment-naive or untreated for at least 6 months
Age
≥16 years
Status active
Patient admission recruiting
Institution SphinCS GmbH
Drug trial
Gaucher Disease
EFC 17215
Study to evaluate the efficacy and safety of Venglustat in adult and pediatric patients with Gaucher disease Type 3 who have reached therapeutic goals with ERT
Age
≥12 and <18 years
Status active
Patient admission recruiting
Institution SphinCS GmbH
Drug trial
Fabry Disease
CARAT_EFC16158
A randomized, open-label, parallel-group, 18-month Phase 3 study to evaluate the effect of Venglustat compared with usual standard of care on left ventricular mass index in participants with Fabry disease and left ventricular hypertrophy
Age
18 to 65
Status active
Patient admission recruiting
Institution SphinCS GmbH
Drug trial
Pompe Disease
Astellas Pompe AT845
A Study to Evaluate Seroprevalence of Antibodies to AAV8 and Assessment of Biomarkers in Patients with Late-Onset Pompe Disease
Age
16 to 69 years
Status active
Patient admission recruiting
Institution SphinCS GmbH
Natural-History-Study
The "U.S. National Library of Medicine" provides a complete list of all international studies at www.clinicaltrials.gov. The comparable EU website is less comprehensive: www.clinicaltrialsregister.eu.
Self-help groups
Gaucher Gesellschaft Deutschland e.V.
https://www.ggd-ev.de/
Niemann-Pick Selbsthilfegruppe Deutschland e.V.
https://www.niemann-pick-selbsthilfegruppe.de
Hand in Hand gegen Tay-Sachs und Sandhoff in Deutschland e.V.
http://tay-sachs-sandhoff.de/
Morbus Fabry Selbsthilfegruppe e.V.
https://fabry-shg.org/
Pompe Deutschland e.V.
https://www.mpompe.de/
Gesellschaft für Mukopolysaccharidosen e.V.
https://mps-ev.de/
Gesellschaft für Mukopolysaccharidosen e.V.
https://mps-ev.de/
Gesellschaft für Mukopolysaccharidosen e.V.
https://mps-ev.de/
Gesellschaft für Mukopolysaccharidosen e.V.
https://mps-ev.de/
Gesellschaft für Mukopolysaccharidosen e.V.
https://mps-ev.de/
Gesellschaft für Mukopolysaccharidosen e.V.
https://mps-ev.de/
Gesellschaft für Mukopolysaccharidosen e.V.
https://mps-ev.de/
Niemann-Pick Selbsthilfegruppe Deutschland e.V.
https://www.niemann-pick.de/
Selbsthilfegruppe Glykogenose Deutschland e.V.
https://www.glykogenose.de/de/
Cystinose-Selbsthilfe e.V.
https://www.cystinose-selbsthilfe.de/
At the moment we are not aware of any self-help groups.
Literature
Cause of Death in PaLents with Chronic Visceral and Chronic Neurovisceral Acid Sphingomyelinase Deficiency (Niemann-Pick Disease Type B and B Variant): Literature Review and Report of New Cases
Mol Genet Metab 118, no. 3 (Jul 2016): 206-13.
Corrigendum to "Cause of Death in PaLents with Chronic Visceral and Chronic Neurovisceral Acid Sphingomyelinase Deficiency (Niemann-Pick Disease Type B and B Variant): Literature Review and Report of New Cases
[Mol. Genet. Metab. 118 (2016) 206-213]." Mol Genet Metab 125, no. 4 (Dec 2018): 360.
Niemann-Pick Disease Type a and B Are Clinically but Also EnzymaLcally Heterogeneous: Pihall in the Laboratory Diagnosis of Sphingomyelinase Deficiency Associated with the MutaLon Q292 K.
Neuropediatrics 34, no. 6 (Dec 2003): 301-6.
Consensus RecommendaLon for a DiagnosLc Guideline for Acid Sphingomyelinase Deficiency
Genet Med 19, no. 9 (Sep 2017): 967-74.
A ProspecLve, Cross- SecLonal Survey Study of the Natural History of Niemann-Pick Disease Type B
Pediatrics 122, no. 2 (Aug 2008): e341-9.
Type B Niemann-Pick Disease: Findings at Chest Radiography, Thin-SecLon Ct, and Pulmonary FuncLon TesLng.
Radiology 238, no. 1 (Jan 2006): 339-45.
CriLcal Assessment of Chitotriosidase Analysis in the RaLonal Laboratory Diagnosis of Children with Gaucher Disease and Niemann-Pick Disease Type a/B and C
J Inherit Metab Dis 29, no. 5 (Oct 2006): 647-52.
Lysosomal Acid Lipase Deficiency: Expanding DifferenLal Diagnosis
Mol Genet Metab 120, no. 1-2 (Jan - Feb 2017): 62-66.
A New Fluorimetric Enzyme Assay for the Diagnosis of Niemann-Pick a/B, with Specificity of Natural Sphingomyelinase Substrate
J Inherit Metab Dis 28, no. 5 (2005): 733-41.
Lysosomal Storage Diseases as DifferenLal Diagnosis of Hepatosplenomegaly
Best Pract Res Clin Gastroenterol 24, no. 5 (Oct 2010): 619-28.
Recommendations for Clinical Monitoring of PaLents with Acid Sphingomyelinase Deficiency (Asmd)
Mol Genet Metab 126, no. 2 (Feb 2019): 98-105.
Gastrointestinal Disturbances and Their Management in Miglustat-Treated Patients
J Inherit Metab Dis 34, no. 5 (Oct 2011): 991-1001.
Psychiatric and Neurological Symptoms in Patients with Niemann-Pick Disease Type C (Np-C): Findings from the International Npc Registry
World J Biol Psychiatry 20, no. 4 (Apr 2019): 310-19.
Acetyl-Dl-Leucine in Niemann-Pick Type C: A Case Series
Neurology 85, no. 16 (Oct 20 2015): 1368-75.
Annual Severity Increment Score as a Tool for Stratifying Patients with Niemann-Pick Disease Type C and for Recruitment to Clinical Trials.
Orphanet J Rare Dis 13, no. 1 (Aug 16 2018): 143.
Consensus Clinical Management Guidelines for Niemann-Pick Disease Type C
Orphanet J Rare Dis 13, no. 1 (Apr 6 2018): 50.
Recommendations on the Diagnosis and Management of Niemann-Pick Disease Type C
Mol Genet Metab 98, no. 1-2 (Sep-Oct 2009): 152-65.
Diagnostic Performance Evaluation of Sulfate-Conjugated Cholesterol Metabolites as Urinary Biomarkers of Niemann-Pick Disease Type C
Clin Chim Acta 494 (Jul 2019): 58-63.
Niemann-Pick Disease Type C Symptomatology: An Expert-Based Clinical Description
Orphanet J Rare Dis 8 (Oct 17 2013): 166.
Differences in Niemann-Pick Disease Type C Symptomatology Observed in Patients of Different Ages
Mol Genet Metab 120, no. 3 (Mar 2017): 180-89.
Stable or Improved Neurological Manifestations During Miglustat Therapy in Patients from the International Disease Registry for Niemann-Pick Disease Type C: An Observational Cohort Study
Orphanet J Rare Dis 10 (May 28 2015): 65.
Disease and Patient Characteristics in Np-C Patients: Findings from an International Disease Registry
Orphanet J Rare Dis 8 (Jan 16 2013): 12.
A Suspicion Index to Aid Screening of Early-Onset Niemann-Pick Disease Type C (Np-C)
BMC Pediatr 16 (Jul 22 2016): 107.
Miglustat in Patients with Niemann-Pick Disease Type C (Np-C): A Multicenter Observational Retrospective Cohort Study
Mol Genet Metab 98, no. 3 (Nov 2009): 243-9.
Niemann-Pick Type C-2 Disease: Identification by Analysis of Plasma Cholestane-3beta,5alpha,6beta-Triol and Further Insight into the Clinical Phenotype
JIMD Rep 23 (2015): 17-26.
Critical Assessment of Chitotriosidase Analysis in the Rational Laboratory Diagnosis of Children with Gaucher Disease and Niemann-Pick Disease Type a/B and C
J Inherit Metab Dis 29, no. 5 (Oct 2006): 647-52.
Invariant Natural Killer T Cells Are Not Affected by Lysosomal Storage in Patients with Niemann-Pick Disease Type C
Eur J Immunol 42, no. 7 (Jul 2012): 1886-92.
Altered Distribution and Function of Natural Killer Cells in Murine and Human Niemann-Pick Disease Type C1
Blood 123, no. 1 (Jan 2 2014): 51-60.
Niemann-Pick Disease Type C Clinical Database: Cognitive and Coordination Deficits Are Early Disease Indicators
Orphanet J Rare Dis 8 (Feb 22 2013): 35.
Niemann-Pick Type C Disease: Characterizing Lipid Levels in Patients with Variant Lysosomal Cholesterol Storage
J Lipid Res 52, no. 4 (Apr 2011): 813-25.
Relative Acidic Compartment Volume as a Lysosomal Storage Disorder-Associated Biomarker
J Clin Invest 124, no. 3 (Mar 2014): 1320-8.
Lysosomal Acid Lipase Deficiency: Expanding Differential Diagnosis
Mol Genet Metab 120, no. 1-2 (Jan - Feb 2017): 62-66.
Lysosomal Storage Diseases as Differential Diagnosis of Hepatosplenomegaly
Best Pract Res Clin Gastroenterol 24, no. 5 (Oct 2010): 619-28.
Plasma Lysosphingomyelin Demonstrates Great Potential as a Diagnostic Biomarker for Niemann-Pick Disease Type C in a Retrospective Study
PLoS One 9, no. 12 (2014): e114669.
Sleep-Related Symptoms and Sleep-Disordered Breathing in Adult Pompe Disease
Eur J Neurol 22, no. 2 (Feb 2015): 369-76, e27.
A Study on the Safety and Efficacy of Reveglucosidase Alfa in Patients with Late-Onset Pompe Disease
Orphanet J Rare Dis 12, no. 1 (Aug 24 2017): 144.
Survival and Developmental Milestones among Pompe Registry Patients with Classic Infantile-Onset Pompe Disease with Different Timing of Initiation of Treatment with Enzyme Replacement Therapy
J Neuromuscul Dis 2, no. s1 (2015): S61-S62.
Expanding the Clinical Spectrum of Late-Onset Pompe Disease: Dilated Arteriopathy Involving the Thoracic Aorta, a Novel Vascular Phenotype Uncovered
Mol Genet Metab 103, no. 4 (Aug 2011): 362-6.
Motor Development in Infantile Pompe Disease
J Neuromuscul Dis 2, no. s1 (2015): S18.
Diagnosis and Care of Infants and Children with Pompe Disease
Klin Padiatr (Feb 18 2020). Diagnostik und Therapie des Morbus Pompe im Kindesalter.
Outcome of Patients with Classical Infantile Pompe Disease Receiving Enzyme Replacement Therapy in Germany
JIMD Rep 20 (2015): 65-75.
A Non-Invasive Diagnostic Assay for Rapid Detection and Characterization of Aberrant Mrna-Splicing by Nonsense Mediated Decay Inhibition
Mol Genet Metab (Mar 19 2020).
A Cross-Sectional Single-Centre Study on the Spectrum of Pompe Disease, German Patients: Molecular Analysis of the Gaa Gene, Manifestation and Genotype-Phenotype Correlations
Orphanet J Rare Dis 7 (Jun 7 2012): 35.
Pregnancy and Delivery in Women with Pompe Disease
Mol Genet Metab 112, no. 2 (Jun 2014): 148-53.
Urge Incontinence and Gastrointestinal Symptoms in Adult Patients with Pompe Disease: A Cross-Sectional Survey
JIMD Rep 17 (2014): 53-61.
Urge Incontinence and Gastrointestinal Symptoms in Adult Patients with Pompe Disease: A Cross-Sectional Survey
JIMD Rep 17 (2014): 53-61.
Extent, Impact, and Predictors of Diagnostic Delay in Pompe Disease: A Combined Survey Approach to Unveil the Diagnostic Odyssey
IMD Rep 49, no. 1 (Sep 2019): 89-95.
Quantification of Intramuscular Fat in Patients with Late-Onset Pompe Disease by Conventional Magnetic Resonance Imaging for the Long-Term Follow-up of Enzyme Replacement Therapy
PLoS One 13, no. 1 (2018): e0190784.
Diagnostic Efficacy of the Fluorometric Determination of Enzyme Activity for Pompe Disease from Dried Blood Specimens Compared with Lymphocytes-Possibility for Newborn Screening
J Inherit Metab Dis 33, no. 1 (Feb 2010): 43-50.
Safety, Tolerability, Pharmacokinetics, Pharmacodynamics, and Exploratory Efficacy of the Novel Enzyme Replacement Therapy Avalglucosidase Alfa (Neogaa) in Treatment-Naive and Alglucosidase Alfa-Treated Patients with Late-Onset Pompe Disease: A Phase 1, O
Neuromuscul Disord 29, no. 3 (Mar 2019): 167-86.
Methods for a Prompt and Reliable Laboratory Diagnosis of Pompe Disease: Report from an International Consensus Meeting
Mol Genet Metab 93, no. 3 (Mar 2008): 275-81.
36 Months Observational Clinical Study of 38 Adult Pompe Disease Patients under Alglucosidase Alfa Enzyme Replacement Therapy
J Inherit Metab Dis 35, no. 5 (Sep 2012): 837-45.
Quantification of Muscle Pathology in Infantile Pompe Disease
Neuromuscul Disord 27, no. 2 (Feb 2017): 141-52.
Diagnosis and Therapy of Late Onset Pompe Disease
Nervenarzt 84, no. 12 (Dec 2013): 1467-72.
Enzyme Replacement Therapy with Alglucosidase Alfa in 44 Patients with Late-Onset Glycogen Storage Disease Type 2: 12-Month Results of an Observational Clinical Trial
J Neurol 257, no. 1 (Jan 2010): 91-7.
Childhood Pompe Disease: Clinical Spectrum and Genotype in 31 Patients
Orphanet J Rare Dis 11, no. 1 (May 18 2016): 65.
Mucopolysaccharidosis (MPS) Clinical and Neuroradiological Aspects of the Different types
Clin Neuroradiol. 2007 Volume 17, Issue 3, pp 141–158.
Endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI
Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase. 2008. Mol Genet Metab 94: 469-475.
Enzyme replacement therapy for mucopoysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®)
Therapy.2013. J Inherit Metab dis 36: 385-394.
Cholesterinester- Speicher-krankheit. Seltene Erkrankungen oder häufig übersehen?
Pädiatrische Praxis. 2013/2014, pp81.
Relative acidic compartment volume as a lysosomal storage disorder-associated Biomarker
J Clin Invest. 2014 Mar;124(3):1320-8.
Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation
Orphanet J Rare Dis. 2015 Jun 6;10:70.
Long-term enzyme replacement therapy with velmanase alfa slows disease progression in adult patients suffering from alpha-mannosidosis
Molecular Genetics and metabolism 120: S30-S30.
Comprehensive long-term efficacy and safety of recombinant human alpha-mannosidase treatment in patients with alpha-mannosidosis
J Inherit Metab Dis. 2018 Nov;41(6):1225-1233.
Efficacy and safety of Velmanase alfa in the treatment of patients with alpha-mannosidosis: results from the core and extension phase analysis of a phase III multicentre, double-blind, randomised, placebo-controlled trial
J Inherit Metab Dis. 2018 Nov;41(6):1215-1223.
Retinal and optic nerve degeneration in α-mannosidosis
Orphanet J Rare Dis. 2018 Jun 1;13(1):88.
Use of the Bruininks-Oseretsky test of motor proficiency (BOT-2) to assess efficacy of velmanase alfa as enzyme therapy for alpha-mannosidosis
Mol Genet Metab Rep. 2020 Jun; 23: 100586.
Consensus Recommendation for a Diagnostic Guideline for Acid Sphingomyelinase DeficiencyGenet Med 19, no. 9 (Sep 2017)
Genet Med 19, no. 9 (Sep 2017): 967-74.
Clinical Disease Progression and Biomarkers in Niemann-Pick Disease Type C: A Prospective Cohort Study
Orphanet J Rare Dis 15, no. 1 (Nov 23 2020): 328.
Treatment Outcomes Following Continuous Miglustat Therapy in Patients with Niemann-Pick Disease Type C: A Final Report of the Npc Registry
Orphanet J Rare Dis 15, no. 1 (Apr 25 2020): 104.
Paediatric Non-Neuronopathic Gaucher Disease: Recommendations for Treatment and Monitoring
Eur J Pediatr 163, no. 2 (Feb 2004): 67-75.
Enzyme Replacement Therapy: A New Treatment Concept in Gaucher Disease
Wien Klin Wochenschr 109, no. 3 (Feb 14 1997): 81-5.
Gastrointestinal Disturbances and Their Management in Miglustat-Treated Patients
J Inherit Metab Dis (Jul 21 2011).
Bone Complications in Children with Gaucher Disease
Br J Radiol 75 Suppl 1 (2002): A37-44.
Management Goals for Type 1 Gaucher Disease: An Expert Consensus Document from the European Working Group on Gaucher Disease
Blood Cells Mol Dis 68 (Feb 2018): 203-08.
Peripheral Neuropathy in Adult Type 1 Gaucher Disease: A 2-Year Prospective Observational Study
Brain 133, no. 10 (Oct 2010): 2909-19.
The Cognitive Profile of Type 1 Gaucher Disease Patients
J Inherit Metab Dis (Feb 21 2012).
Oculomotor and Vestibular Findings in Gaucher Disease Type 3 and Their Correlation with Neurological Findings
Front Neurol 8 (2017): 711.
Outcome of Type Iii Gaucher Disease on Enzyme Replacement Therapy: Review of 55 Cases
J Inherit Metab Dis 30, no. 6 (Nov 2007): 935-42.
Four-Year Follow-up of Chronic Neuronopathic Gaucher Disease in Europeans Using a Modified Severity Scoring Tool
J Inherit Metab Dis (May 28 2011).
Fda Orphan Drug Designations for Lysosomal Storage Disorders - a Cross-Sectional Analysis
PLoS One 15, no. 4 (2020): e0230898.
The Management of Pregnancy in Gaucher Disease
Eur J Obstet Gynecol Reprod Biol 156, no. 1 (May 2011): 3-8.
Force Majeure: Therapeutic Measures in Response to Restricted Supply of Imiglucerase (Cerezyme) for Patients with Gaucher Disease
Blood Cells Mol Dis 44, no. 1 (Jan 15 2010): 41-7.
A Comprehensive Monocentric Ophthalmic Study with Gaucher Disease Type 3 Patients: Vitreoretinal Lesions, Retinal Atrophy and Characterization of Abnormal Saccades
Orphanet J Rare Dis 14, no. 1 (Nov 14 2019): 257.
Morbus Gaucher: Eine Stoffwechselstörung Mit Typischer, Kutaner Manifestation
Der Deutsche Dermatologe, no. 3 (2006).
Evaluation of Treatment Response to Enzyme Replacement Therapy with Velaglucerase Alfa in Patients with Gaucher Disease Using Whole-Body Magnetic Resonance Imaging
Blood Cells Mol Dis 57 (Mar 2016): 35-41.
Evaluation of Bone Marrow Infiltration in Non-Neuropathic Gaucher Disease Patients with Use of Whole-Body Mri - a Retrospective Data Analysis
Rofo (Jul 22 2015)
Retrospective Analysis of Whole-Body Magnetic Resonance Imaging of Bone Manifestations in Long-Term Treated Patients with Gaucher Disease Type 1
Klin Padiatr 231, no. 2 (Mar 2019): 52-59.
Rheumatologic Aspects of Lysosomal Storage Diseases
Clin Rheumatol 26, no. 3 (Mar 2007): 335-41.
Gaucher Disease, Fabry Disease and Mucopolysaccharidosis Type I - How Can the Rheumatologist Recognise These Patients?
Z Rheumatol (Dec 22 2005).
Exploring the Patient Journey to Diagnosis of Gaucher Disease from the Perspective of 212 Patients with Gaucher Disease and 16 Gaucher Expert Physicians
Mol Genet Metab (Aug 04 2017).
Presenting Signs and Patient Co-Variables in Gaucher Disease: Outcome of the Gaucher Earlier Diagnosis Consensus (Ged-C) Delphi Initiative
Intern Med J 49, no. 5 (May 2019): 578-91.
Plasma Lipids Are Altered in Gaucher Disease: Biochemical Markers to Evaluate Therapeutic Intervention
Blood Cells Mol Dis 40, no. 3 (May-Jun 2008): 420-7.
Morbus Gaucher, Mukopolysaccharidose Typ I (Scheie) Und Morbus Fabry
Monatszeitschrift Kinderheilkunde 154, no. 4 (2006): 297-394.
Lysosomal Storage Diseases as Differential Diagnoses to Rheumatic Disorders
Curr Opin Rheumatol 20, no. 1 (Jan 2008): 76-81.
A Phase 3, Multicenter, Open-Label, Switchover Trial to Assess the Safety and Efficacy of Taliglucerase Alfa, a Plant Cell-Expressed Recombinant Human Glucocerebrosidase, in Adult and Pediatric Patients with Gaucher Disease Previously Treated with Imigluc
Blood Cells Mol Dis (Jun 17 2014).
Critical Assessment of Chitotriosidase Analysis in the Rational Laboratory Diagnosis of Children with Gaucher Disease and Niemann-Pick Disease Type a/B and C
J Inherit Metab Dis 29, no. 5 (Oct 2006): 647-52.
The Definition of Neuronopathic Gaucher Disease
J Inherit Metab Dis (Apr 3 2020).
Lysosomal Acid Lipase Deficiency: Expanding Differential Diagnosis
Mol Genet Metab 120, no. 1-2 (Jan - Feb 2017): 62-66.
Management of Neuronopathic Gaucher Disease: A European Consensus
J Inherit Metab Dis 24, no. 3 (Jun 2001): 319-27.
Management of Neuronopathic Gaucher Disease: Revised Recommendations
J Inherit Metab Dis 32, no. 5 (Oct 2009): 660-4.
Lysosomal Storage Diseases as Differential Diagnosis of Hepatosplenomegaly
Best Pract Res Clin Gastroenterol 24, no. 5 (Oct 2010): 619-28.
Gaucher Disease and Miscellaneous
Acta Paediatr Suppl 95, no. 451 (Apr 2006): 139-44.
Functional and Genetic Characterization of the Non-Lysosomal Glucosylceramidase 2 as a Modifier for Gaucher Disease
Orphanet J Rare Dis 8, no. 1 (Sep 26 2013): 151.
The Female Gaucher Patient: The Impact of Enzyme Replacement Therapy around Key Reproductive Events (Menstruation, Pregnancy and Menopause)
Blood Cells Mol Dis (Jun 5 2009).
Cholesterinester-Speicherkrankheit - Seltene Erkrankung Oder Häufig Übersehen?
Pädiatrische Praxis 81 (2013): 99-105.
A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency
N Engl J Med 373, no. 11 (Sep 10 2015): 1010-20.
Lysosomal Acid Lipase Deficiency: Expanding Differential Diagnosis
Mol Genet Metab 120, no. 1-2 (Jan - Feb 2017): 62-66.
Enzyme Replacement Therapy and/or Hematopoietic Stem Cell Transplantation at Diagnosis in Patients with Mucopolysaccharidosis Type I: Results of a European Consensus Procedure
Orphanet J Rare Dis 6 (2011): 55.
Long-Term Outcomes of Systemic Therapies for Hurler Syndrome: An International Multicenter Comparison
Genet Med (Mar 8 2018).
Fda Orphan Drug Designations for Lysosomal Storage Disorders - a Cross-Sectional Analysis
PLoS One 15, no. 4 (2020): e0230898.
The Morquio a Clinical Assessment Program: Baseline Results Illustrating Progressive, Multisystemic Clinical Impairments in Morquio a Subjects
Mol Genet Metab 109, no. 1 (May 2013): 54-61.
Impact of Elosulfase Alfa in Patients with Morquio a Syndrome Who Have Limited Ambulation: An Open-Label, Phase 2 Study
Am J Med Genet A 173, no. 2 (Feb 2017): 375-83.
Longitudinal Analysis of Endurance and Respiratory Function from a Natural History Study of Morquio a Syndrome
Mol Genet Metab 114, no. 2 (Feb 2015): 186-94.
Efficacy and Safety of Enzyme Replacement Therapy with Bmn 110 (Elosulfase Alfa) for Morquio a Syndrome (Mucopolysaccharidosis Iva): A Phase 3 Randomised Placebo-Controlled Study
J Inherit Metab Dis (May 9 2014).
Multi-Domain Impact of Elosufase Alfa in Morquio a Syndrome in the Pivotal Phase Iii Trial
Mol Genet Metab 114, no. 2 (Feb 2015): 178-85.
Treatment with Pentosan Polysulphate in Patients with Mps I: Results from an Open Label, Randomized, Monocentric Phase Ii Study
J Inherit Metab Dis 39, no. 6 (Nov 2016): 831-37.
Clinical Outcomes in a Subpopulation of Adults with Morquio a Syndrome: Results from a Long-Term Extension Study of Elosulfase Alfa
Orphanet J Rare Dis 12, no. 1 (May 23 2017): 98.
Heart and Cardiovascular Involvement in Patients with Mucopolysaccharidosis Type Iva (Morquio-a Syndrome)
PLoS One 11, no. 9 (2016): e0162612.
Mucopolysaccharidosis Vi: Cardiac Involvement and the Impact of Enzyme Replacement Therapy
J Inherit Metab Dis 37, no. 2 (Mar 2014): 269-76.
Management of Life-Threatening Tracheal Stenosis and Tracheomalacia in Patients with Mucopolysaccharidoses
JIMD Rep 33 (2017): 33-39.
Craniocervical Decompression in Patients with Mucopolysaccharidosis Vi: Development of a Scoring System to Determine Indication and Outcome of Surgery
J Inherit Metab Dis (Feb 14 2013).
Type B Niemann-Pick Disease: Findings at Chest Radiography, Thin-Section Ct, and Pulmonary Function Testing
Radiology 238, no. 1 (Jan 2006): 339-45.
Morbus Gaucher, Mukopolysaccharidose Typ I (Scheie) Und Morbus Fabry
Monatszeitschrift Kinderheilkunde 154, no. 4 (2006): 297-394.
Clinical Characteristics of Adults with Slowly Progressing Mucopolysaccharidosis Vi: A Case Series
J Inherit Metab Dis (Mar 23 2012).
Lysosomal Storage Disorder in Non-Immunological Hydrops Fetalis (Nihf): More Common Than Assumed? Report of Four Cases with Transient Nihf and a Review of the Literature
Orphanet J Rare Dis 7 (2012): 86.
Neurology of Adult Alpha-Mannosidosis
J Neurol Neurosurg Psychiatry 61, no. 1 (Jul 1996): 116-7.
Enzyme Replacement Therapy for Alpha-Mannosidosis: 12 Months Follow-up of a Single Centre, Randomised, Multiple Dose Study
J Inherit Metab Dis 36, no. 6 (Nov 2013): 1015-24
Natural History of Alpha Mannosidosis a Longitudinal Study
Orphanet J Rare Dis 8, no. 1 (Jun 20 2013): 88.
Phenotype Determining Alleles in Gm1 Gangliosidosis Patients Bearing Novel Glb1 Mutations
Clin Genet 78, no. 3 (Sep 2010): 236-46.
Thalamic Hyperdensity - Is It a Diagnostic Marker for Sandhoff Disease?
Brain Dev 15, no. 5 (Sep-Oct 1993): 387-8.
Progressive Cerebellar Ataxia in Juvenile Gm2-Gangliosidosis Type Sandhoff
Eur J Pediatr 157, no. 10 (Oct 1998): 866-7.
Gaucher's Disease: Therapy by Intravenous Infusions of Modified Glucocerebrosidase
Clin Investig 71, no. 1 (Jan 1993): 78. http://dx.doi.org/10.1007/BF00210974.
Molecular Analysis of Gaucher Disease: Distribution of Eight Mutations and the Complete Gene Deletion in 27 Patients from Germany
Hum Genet 99, no. 6 (Jun 1997): 816-21. http://dx.doi.org/10.1007/s004390050454.
The Role of the Iminosugar N-Butyldeoxynojirimycin (Miglustat) in the Management of Type I (Non-Neuronopathic) Gaucher Disease: A Position Statement
J Inherit Metab Dis 26, no. 6 (2003): 513-26.
Morbus Niemann-Pick Typ C
Monatsschrift Kinderheilkunde 160, no. 1 (2011): 47-54.
Alglucosidase Alfa: Long Term Use in the Treatment of Patients with Pompe Disease
Ther Clin Risk Manag 5 (2009): 767-72.
Early Treatment with Alglucosidase Alpha Prolongs Long-Term Survival of Infants with Pompe Disease
Pediatr Res 66, no. 3 (Sep 2009): 329-35.
Recombinant Human Acid Alpha-Glucosidase: Major Clinical Benefits in Infantile-Onset Pompe Disease
Neurology 68, no. 2 (Jan 9 2007): 99-109.
Morbus Fabry - Aktuelle Therapeutische Perspektiven
Dtsch Ärztebl 98;A, no. 8 (2001): 466-8
Anderson-Fabry Disease in Children and Adolescents
Contrib Nephrol, no. 136 (2001): 251-5.
Angiokeratoma and Pain, but Not Fabry's Disease: Considerations for Differential Diagnosis
Contrib Nephrol, no. 136 (2001): 256-9
Neurological Manifestation of Fabry Disease in Females
Contrib Nephrol, no. 136 (2001): 241-4
Anderson-Fabry Disease: Clinical Manifestations of Disease in Female Heterozygotes
J Inherit Metab Dis 24, no. 7 (Dec 2001): 715-24.
Clinical Manifestation in Female Fabry Disease Patients
Contrib Nephrol, no. 136 (2001): 245-50.
Agalsidase Alfa--a Preparation for Enzyme Replacement Therapy in Anderson-Fabry Disease
Expert opinion on investigational drugs 11, no. 6 (Jun 2002): 851-8.
Cardiac Involvement in Anderson-Fabry Disease
J Am Soc Nephrol 13 Suppl 2 (Jun 2002): S147-9.
Cardiac Manifestations of Anderson-Fabry Disease in Heterozygous Females
Journal of the American College of Cardiology 40, no. 9 (Nov 6 2002): 1668-74.
nfluence of Enzyme Replacement Therapy (Ert) on Anderson Fabry Disease Associated Hypertrophic Infiltrative Cardiomyopathy (Hic)
Eur J Pediatr 161 (2002): R5.
Enzyme Replacement Therapy in Anderson-Fabry Cardiomyopathy
Heart Metab. 18 (2002): 39-41.
The Heart in Anderson Fabry Disease
Z Kardiol 91, no. 10 (Oct 2002): 786-95.
Fabry Disease: Focus on Cardiac Manifestations and Molecular Mechanisms
Herz 27, no. 7 (Nov 2002): 699-702.
Enzyme Replacement Therapy in Heterozygous Females with Fabry Disease: Results of a Phase Iiib Study
J Inherit Metab Dis 26, no. 7 (2003): 617-27.
Fabry Disease: New Clinical Research--Current Therapeutic Perspectives
Wien Klin Wochenschr 115, no. 7-8 (Apr 30 2003): 215-7.
Fabry Disease - a Progressive Multisystemic Lysosomal Storage Disorder
In Metabolic Cardiomyopathy, edited by H. Böhles and A. C. Sewell, 123 - 27. Stuttgart: medpharm, 2004.
Fabry Disease: Overall Effects of Agalsidase Alfa Treatment
Eur J Clin Invest 34, no. 12 (Dec 2004): 838-44.
Fabry Disease Defined: Baseline Clinical Manifestations of 366 Patients in the Fabry Outcome Survey
Eur J Clin Invest 34, no. 3 (Mar 2004): 236-42.
The Mainz Severity Score Index: A New Instrument for Quantifying the Anderson-Fabry Disease Phenotype, and the Response of Patients to Enzyme Replacement Therapy
Clin Genet 65, no. 4 (Apr 2004): 299-307.
White Matter Lesion Severity in Male and Female Patients with Fabry Disease
Neurology 65, no. 4 (Aug 23 2005): 600-2.
Effects of Enzyme Replacement Therapy on Pain and Health Related Quality of Life in Patients with Fabry Disease: Data from Fos (Fabry Outcome Survey)
J Med Genet 42, no. 3 (Mar 2005): 247-52.
The Right Ventricle in Fabry Disease
Acta Paediatr Suppl 94, no. 447 (Mar 2005): 15-8; discussion 9-10.
Anemia Is a New Complication in Fabry Disease: Data from the Fabry Outcome Survey
Kidney Int 67, no. 5 (May 2005): 1955-60.
Anemia Is a New Complication in Fabry Disease: Data from the Fabry Outcome Survey
Kidney Int 67, no. 5 (May 2005): 1955-60.
The Ratio of Alpha-Galactosidase to Beta-Glucuronidase Activities in Dried Blood for the Identification of Female Fabry Disease Patients
J Inherit Metab Dis 28, no. 5 (2005): 803-5.
Psychiatrische Und Neuropsychologische Auffälligkeiten Bei Patienten Mit Morbus Fabry: Literaturübersicht
Fortschr Neurol Psychiatr 73, no. 11 (Nov 2005): 687-93.
Thirty-Four Novel Mutations of the Gla Gene in 121 Patients with Fabry Disease
Hum Mutat 25, no. 4 (Apr 2005): 412.
Successful Pregnancy Outcome in a Patient with Fabry Disease Receiving Enzyme Replacement Therapy with Agalsidase Alfa
J Inherit Metab Dis 28, no. 5 (Jan 2005): 787-8.
Natural History of Fabry Disease in Females in the Fabry Outcome Survey
J Med Genet 43, no. 4 (Apr 2006): 347-52.
Pattern of Microstructural Brain Tissue Alterations in Fabry Disease : A Diffusion-Tensor Imaging Study
J Neurol 253, no. 6 (Jun 2006): 780-7.
Agalsidase Alpha and Hearing in Fabry Disease: Data from the Fabry Outcome Survey
Eur J Clin Invest 36, no. 9 (Sep 2006): 663-7.
Hearing Loss in Fabry Disease: Data from the Fabry Outcome Survey
Eur J Clin Invest 36, no. 9 (Sep 2006): 654-62.
Prevalence of Uncontrolled Hypertension in Patients with Fabry Disease
Am J Hypertens 19, no. 8 (Aug 2006): 782-7.
Hyperhidrosis: A New and Often Early Symptom in Fabry Disease. International Experience and Data from the Fabry Outcome Survey
Int J Clin Pract 60, no. 9 (Sep 2006): 1053-9.
Recurrent Brief Depression in a Female Patient with Fabry Disease
Bipolar Disord 8, no. 4 (Aug 2006): 418-9.
Pathophysiological Aspects of Brain Structural Disturbances in Patients with Fabry Disease: Literature Review
Fortschr Neurol Psychiatr 74, no. 12 (Dec 2006): 687-95.
Clinical Manifestations of Fabry Disease in Children: Data from the Fabry Outcome Survey
Acta Paediatr 95, no. 1 (Jan 2006): 86-92.
Enzyme-Replacement Therapy with Agalsidase Alfa in Children with Fabry Disease
Pediatrics 118, no. 3 (Sep 2006): 924-32.
An Association Study of Inflammatory Cytokine Gene Polymorphisms in Fabry Disease
Eur Cytokine Netw 17, no. 4 (Dec 2006): 271-5.
Enzyme Replacement Therapy and Renal Function in 201 Patients with Fabry Disease
Clin Nephrol 66, no. 2 (Aug 2006): 77-84.
Iga Nephropathy in Two Adolescent Sisters Heterozygous for Fabry Disease
Pediatr Nephrol 21, no. 9 (Sep 2006): 1251-6.
Voxel Based Analyses of Diffusion Tensor Imaging in Fabry Disease
J Neurol Neurosurg Psychiatry 78, no. 9 (Sep 2007): 964-9.
New Therapeutic Options for Lysosomal Storage Disorders: Enzyme Replacement, Small Molecules and Gene Therapy
Hum Genet 121, no. 1 (Mar 2007): 1-22.
Fabry Disease: Demographic Data since Introduction of Enzyme Replacement Therapy
Dtsch Med Wochenschr 132, no. 28-29 (Jul 5 2007): 1505-9.
Nature and Prevalence of Pain in Fabry Disease and Its Response to Enzyme Replacement Therapy--a Retrospective Analysis from the Fabry Outcome Survey
Clin J Pain 23, no. 6 (Jul-Aug 2007): 535-42.
Hearing Loss in Patients with Fabry Disease
HNO 55, no. 3 (Mar 2007): 185-89.
Cardiac Manifestations of Anderson-Fabry Disease: Results from the International Fabry Outcome Survey
Eur Heart J 28, no. 10 (May 2007): 1228-35.
Direct Comparison of Enzyme Measurements from Dried Blood and Leukocytes from Male and Female Fabry Disease Patients
J Inherit Metab Dis 30, no. 4 (Aug 2007): 614.
Fabry Disease and the Skin: Data from Fos, the Fabry Outcome Survey
Br J Dermatol 157, no. 2 (Aug 2007): 331-7.
Enzyme Replacement in Fabry Disease: Pharmacokinetics and Pharmacodynamics of Agalsidase Alfa in Children and Adolescents
J Clin Pharmacol 47, no. 10 (Oct 2007): 1222-30.
Ocular Manifestations of Fabry's Disease: Data from the Fabry Outcome Survey
Br J Ophthalmol 91, no. 2 (Feb 2007): 210-4.
Correlation between Interleukin-6 Promoter and C-Reactive Protein (Crp) Polymorphisms and Crp Levels with the Mainz Severity Score Index for Fabry Disease
J Inherit Metab Dis 31, no. 1 (Feb 2008): 117-23.
Fabry Disease - Complex Clinical Picture, Simple Diagnosis Procedure, Causal Treatment
Dtsch Med Wochenschr 133, no. 39 (Sep 2008): 1965-72; quiz 73-4.
Onset and Progression of the Anderson-Fabry Disease Related Cardiomyopathy
Int J Cardiol 130, no. 3 (Nov 28 2008): 367-73.
Cardiac Manifestations of Anderson-Fabry Disease in Children and Adolescents
Acta Paediatr 97, no. 4 (Apr 2008): 463-9.
Cardiac Manifestations of Anderson-Fabry Disease in Children and Adolescents
Acta Paediatr 97, no. 4 (Apr 2008): 463-9.
Enzyme Replacement Therapy in Fabry Disease: Comparison of Agalsidase Alfa and Agalsidase Beta
Mol Genet Metab 95, no. 1-2 (Sep-Oct 2008): 114-5
Association between Polymorphisms of Endothelial Nitric Oxide Synthase Gene (Nos3) and Left Posterior Wall Thickness (Lpwt) of the Heart in Fabry Disease
J Inherit Metab Dis 31, no. 6 (Oct 22 2008): 773.
Genetic Polymorphisms of Vitamin D Receptor (Vdr) in Fabry Disease
Genetica 134, no. 3 (Nov 2008): 377-83.
Downregulation of a-Galactosidase a Upregulates Cd77: Functional Impact for Fabry Nephropathy
Kidney Int 75, no. 4 (2008): 399-407.
Agalsidase Alfa for the Treatment of Fabry Disease: New Data on Clinical Efficacy and Safety
Expert Opin Biol Ther 9, no. 2 (Feb 2009): 255-61.
Diagnostic Utility of Different Mri and Mr Angiography Measures in Fabry Disease
Neurology 72, no. 1 (Jan 6 2009): 63-8.
Enzyme Replacement Therapy with Agalsidase Alfa in Pregnant Women with Fabry Disease
Eur J Obstet Gynecol Reprod Biol 144, no. 1 (May 2009): 92-3.
Enzyme Replacement Therapy with Agalsidase Alfa in Patients with Fabry's Disease: An Analysis of Registry Data
Lancet 374, no. 9706 (Dec 12 2009): 1986-96.
Natural Course of Fabry Disease: Changing Pattern of Causes of Death in Fos - Fabry Outcome Survey
J Med Genet 46, no. 8 (Aug 2009): 548-52.
Fabry Disease in Children and the Effects of Enzyme Replacement Treatment
Eur J Pediatr 168, no. 11 (Nov 2009): 1355-63.
Effect of Enzyme Replacement Therapy (Ert) on Renal Function of Patients with Fabry's Disease
Med Klin (Munich) 104, no. 9 (Sep 15 2009): 699-703.
Agalsidase Alfa and Kidney Dysfunction in Fabry Disease
J Am Soc Nephrol 20, no. 5 (May 2009): 1132-9.
A 4-Year Study of the Efficacy and Tolerability of Enzyme Replacement Therapy with Agalsidase Alfa in 36 Women with Fabry Disease
Genet Med 11, no. 6 (Jun 2009): 441-9.
A Validated Disease Severity Scoring System for Fabry Disease
Mol Genet Metab 99, no. 3 (Mar 2010): 283-90.
Determination of Globotriaosylceramide in Plasma and Urine by Mass Spectrometry
Clin Chem Lab Med 48, no. 2 (Feb 2010): 189-98.
Fabry Disease: A Review of Current Management Strategies
Qjm 103, no. 9 (September 1, 2010 2010): 641-59.
Paraoxonase (Pon1) Gene Polymorphisms in Fabry Disease: Correlation with Renal Disease
Nephron Clinical Practice 116, no. 4 (2010): c289-c93.
Impact of Measures to Enhance the Value of Observational Surveys in Rare Diseases: The Fabry Outcome Survey (Fos)
Value Health 14, no. 6 (Sep-Oct 2011): 862-6. Accessed 2011/10//
Safety of Agalsidase Alfa in Patients with Fabry Disease under 7 Years
Acta Paediatr 100, no. 4 (Apr 2011): 605-11.
Neuropsychiatric Symptoms and Brain Structural Alterations in Fabry Disease
Eur J Neurol 18, no. 2 (Feb 2011): 347-53.
Clinical Utility Gene Card For: Fabry Disease
Eur J Hum Genet 20, no. 2 (Feb 2012).
Quantification of the Fabry Marker Lysogb3 in Human Plasma by Tandem Mass Spectrometry
J Chromatogr B Analyt Technol Biomed Life Sci 883-884 (Feb 1 2012): 128-35.
abry Disease in Children and Response to Enzyme Replacement Therapy: Results from the Fabry Outcome Survey
Clin Genet 81, no. 5 (May 2012): 485-90.
Measuring Patient Experiences in Fabry Disease: Validation of the Fabry-Specific Pediatric Health and Pain Questionnaire (Fphpq)
Health Qual Life Outcomes 10, no. 1 (Sep 20 2012): 116.
Home-Based Infusion Therapy--a Feasible Approach for Chronically Ill Patients? A New Path to Provide Superior Patient Care Exemplified for Fabry's Disease
Dtsch Med Wochenschr 138, no. 46 (Nov 2013): 2345-50.
Successful Long-Term Enzyme Replacement Therapy in a Young Adult with Fabry Disease
Clin Genet 83, no. 4 (Apr 2013): 395-6.
Long-Term Effectiveness of Agalsidase Alfa Enzyme Replacement in Fabry Disease: A Fabry Outcome Survey Analysis
Mol Genet Metab Rep 3, no. 0 (Jun 2015): 21-7.
Effectiveness of Agalsidase Alfa Enzyme Replacement in Fabry Disease: Cardiac Outcomes after 10 Years' Treatment
Orphanet J Rare Dis 10 (2015): 125.
Eight-Year Follow-up of Neuropsychiatric Symptoms and Brain Structural Changes in Fabry Disease
PLoS ONE 10, no. 9 (2015): e0137603.
Thromboembolic Events in Fabry Disease and the Impact of Factor V Leiden
Neurology 84, no. 10 (Mar 10 2015): 1009-16.
Ocular Signs Correlate Well with Disease Severity and Genotype in Fabry Disease
PLoS ONE 10, no. 3 (2015): e0120814.
A 15-Year Perspective of the Fabry Outcome Survey
Journal of Inborn Errors of Metabolism and Screening 4 (2016): 2326409816666298.
Paediatric Fabry Disease: Prognostic Significance of Ocular Changes for Disease Severity
BMC Ophthalmol 16, no. 1 (Nov 16 2016): 202.
Clinical Utility Gene Card For: Fabry Disease - Update 2016
Eur J Hum Genet 25, no. 7 (Jun 2017): e1-e3.
Comment: Why Are Females with Fabry Disease Affected?
Mol Genet Metab Rep 21 (Dec 2019): 100529.
Cardio- Renal Outcomes with Long- Term Agalsidase Alfa Enzyme Replacement Therapy: A 10- Year Fabry Outcome Survey (Fos) Analysis
Drug design, development and therapy 13 (2019): 3705-15.
Standardising Clinical Outcomes Measures for Adult Clinical Trials in Fabry Disease: A Global Delphi Consensus
Mol Genet Metab (Feb 20 2021).
Mucopolysaccharidosis Type I: Identification of 8 Novel Mutations and Determination of the Frequency of the Two Common Alpha-L-Iduronidase Mutations (W402x and Q70x) among European Patients
Hum Mol Genet 3, no. 6 (Jun 1994): 861-6.
Mucopolysaccharidosis Type I: Identification of 13 Novel Mutations of the Alpha-L-Iduronidase Gene
Hum Mutat 6, no. 1 (1995): 91-4.
Capturing Phenotypic Heterogeneity in Mps I: Results of an International Consensus Procedure
Orphanet J Rare Dis 7, no. 1 (Apr 23 2012): 22.
Clinical Outcomes in Idursulfase-Treated Patients with Mucopolysaccharidosis Type Ii: 3-Year Data from the Hunter Outcome Survey (Hos)
Orphanet J Rare Dis 12, no. 1 (Oct 3 2017): 161.
Ten Years of the Hunter Outcome Survey (Hos): Insights, Achievements, and Lessons Learned from a Global Patient Registry
Orphanet J Rare Dis 12, no. 1 (May 2 2017): 82.
Mucopolysaccharidosis Type Ii: European Recommendations for the Diagnosis and Multidisciplinary Management of a Rare Disease
Orphanet J Rare Dis 6, no. 1 (Nov 7 2011): 72.
Hunter Disease before and During Enzyme Replacement Therapy
Pediatr Neurol 45, no. 3 (Sep 2011): 181-4.
Mucopolysaccharidosis Type Ii (Hunter Syndrome): Mutation "Hot Spots" in the Iduronate-2-Sulfatase Gene
Am J Hum Genet 59, no. 6 (Dec 1996): 1202-9.
Mucopolysaccharidosis Type Ii (Hunter Syndrome): A Clinical Review and Recommendations for Treatment in the Era of Enzyme Replacement Therapy
Eur J Pediatr 167, no. 3 (Mar 2008): 267-77.
Initial Report from the Hunter Outcome Survey
Genet Med 10, no. 7 (Jul 2008): 508-16.
Mortality and Cause of Death in Mucopolysaccharidosis Type Ii-a Historical Review Based on Data from the Hunter Outcome Survey (Hos)
J Inherit Metab Dis 32, no. 4 (Aug 2009): 534-43.
A Novel Loss-of-Function Mutation in the Gns Gene Causes Sanfilippo Syndrome Type D
Genet Couns 20, no. 2 (2009): 133-9.
Mucopolysaccharidosis Type Iiib (Sanfilippo B): Identification of 18 Novel Alpha-N-Acetylglucosaminidase Gene Mutations
J Med Genet 36, no. 1 (Jan 1999): 28-31.
Review of Clinical Presentation and Diagnosis of Mucopolysaccharidosis Iva
Mol Genet Metab 110, no. 1-2 (Sep-Oct 2013): 54-64.
Diagnosing Mucopolysaccharidosis Iva
J Inherit Metab Dis 36, no. 2 (Mar 2013): 293-307.
Development of a Scoring System to Evaluate the Severity of Craniocervical Spinal Cord Compression in Patients with Mucopolysaccharidosis Iva (Morquio a Syndrome)
JIMD Rep 11 (Apr 12 2013): 65-72.
Spinal Involvement in Mucopolysaccharidosis Iva (Morquio-Brailsford or Morquio a Syndrome): Presentation, Diagnosis and Management
J Inherit Metab Dis 36, no. 2 (Mar 2013): 339-55.
Gm1 Gangliosidosis and Morquio B Disease: Expression Analysis of Missense Mutations Affecting the Catalytic Site of Acid Beta-Galactosidase
Hum Mutat 30, no. 8 (Aug 2009): 1214-21.
Mutation Analyses in 17 Patients with Deficiency in Acid Beta-Galactosidase: Three Novel Point Mutations and High Correlation of Mutation W273l with Morquio Disease Type B
Hum Genet 109, no. 2 (Aug 2001): 159-66.
Morquio's Disease Type B (Beta-Galactosidase Deficiency) in Three Siblings
S Afr Med J 72, no. 10 (Nov 21 1987): 704-7.
Fetal Presentation of Morquio Disease Type A
Prenat Diagn 12, no. 12 (Dec 1992): 1019-29.
Identification of 31 Novel Mutations in the N-Acetylgalactosamine-6-Sulfatase Gene Reveals Excessive Allelic Heterogeneity among Patients with Morquio a Syndrome
Hum Mutat 10, no. 3 (1997): 223-32.
Enzyme Replacement Therapy for Mucopolysaccharidosis Vi: Long-Term Cardiac Effects of Galsulfase (Naglazyme(R)) Therapy
J Inherit Metab Dis 36, no. 2 (Mar 2013): 385-94.
Mutational Analysis of 105 Mucopolysaccharidosis Type Vi Patients
Hum Mutat 28, no. 9 (Sep 2007): 897-903.
Galsulfase: Enzyme-Replacement Therapy for Mucopolysaccharidosis Type Vi (Maroteaux-Lamy Syndrome)
Therapy 3, no. 1 (2006): 9-17.
Central Corneal Thickness in Mucopolysaccharidosis Ii and Vi
Cornea 29, no. 3 (Mar 2010): 260-2.
Enzyme Replacement Therapy for Mucopolysaccharidosis Vi: Evaluation of Long-Term Pulmonary Function in Patients Treated with Recombinant Human N-Acetylgalactosamine 4-Sulfatase
J Inherit Metab Dis 33, no. 1 (Feb 2010): 51-60.
Long-Term Follow-up of Endurance and Safety Outcomes During Enzyme Replacement Therapy for Mucopolysaccharidosis Vi: Final Results of Three Clinical Studies of Recombinant Human N-Acetylgalactosamine 4-Sulfatase
Mol Genet Metab 94, no. 4 (Aug 2008): 469-75.
Enzyme Replacement Therapy for Mucopolysaccharidosis Vi: A Phase 3, Randomized, Double-Blind, Placebo-Controlled, Multinational Study of Recombinant Human N-Acetylgalactosamine 4-Sulfatase (Recombinant Human Arylsulfatase B or Rhasb) and Follow-on, Open-L
J Pediatr 148, no. 4 (Apr 2006): 533-39.
Threshold Effect of Urinary Glycosaminoglycans and the Walk Test as Indicators of Disease Progression in a Survey of Subjects with Mucopolysaccharidosis Vi (Maroteaux-Lamy Syndrome)
Am J Med Genet A 134A, no. 2 (Apr 15 2005): 144-50.
Clinical Course of Sly Syndrome (Mucopolysaccharidosis Type Vii)
J Med Genet 53, no. 6 (Jun 2016): 403-18.
Inter- and Intrafamilial Variability in Mucolipidosis Ii (I-Cell Disease)
Clin Genet 47, no. 4 (Apr 1995): 191-9.
Heparan Sulfate Levels in Mucopolysaccharidoses and Mucolipidoses
J Inherit Metab Dis 28, no. 5 (Jan 2005): 743-57.
Molecular Order in Mucolipidosis Ii and Iii Nomenclature
Am J Med Genet A 146A, no. 4 (Feb 15 2008): 512-3.
Neuraminidase Deficiency Presenting as Non-Immune Hydrops Fetalis
Eur J Pediatr 143, no. 2 (Dec 1984): 135-9.
Neuraminidase Assay in Cultured Human Fibroblasts: In Situ Versus in Vitro Procedures
Clin Chim Acta 251, no. 2 (Jul 30 1996): 163-71.
A Case with Early Infantile Form of Galactosialidosis with Unusual Haematological Findings
J Inherit Metab Dis 22, no. 5 (1999): 668-9.
Splice Donor Site Mutation in the Lysosomal Neuraminidase Gene Causing Exon Skipping and Complete Loss of Enzyme Activity in a Sialidosis Patient
FEBS Lett 501, no. 2-3 (Jul 20 2001): 135-8.
At present we have no literature available.