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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.
- Published in:
- PLoS ONE, 2018, v. 13, n. 1, p. 1, doi. 10.1371/journal.pone.0190784
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- Publication type:
- Article
Annual severity increment score as a tool for stratifying patients with Niemann-Pick disease type C and for recruitment to clinical trials.
- Published in:
- 2018
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- Publication type:
- journal article
Consensus clinical management guidelines for Niemann-Pick disease type C.
- Published in:
- 2018
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- Publication type:
- journal article
A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease.
- Published in:
- 2017
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- Publication type:
- journal article
Venglustat combined with imiglucerase for neurological disease in adults with Gaucher disease type 3: the LEAP trial.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 2, p. 461, doi. 10.1093/brain/awac379
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- Publication type:
- Article
Qualitative Study of the Patient Experience with Venglustat for Gaucher Disease Type 3 in a Phase 2 Open-Label, Multicenter, Multinational Study (LEAP).
- Published in:
- Advances in Therapy, 2024, v. 41, n. 7, p. 2907, doi. 10.1007/s12325-024-02881-2
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- Publication type:
- Article
Mutations in ABCD4 cause a new inborn error of vitamin B<sub>12</sub> metabolism.
- Published in:
- Nature Genetics, 2012, v. 44, n. 10, p. 1152, doi. 10.1038/ng.2386
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- Publication type:
- Article
IgA nephropathy in two adolescent sisters heterozygous for Fabry disease.
- Published in:
- Pediatric Nephrology, 2006, v. 21, n. 9, p. 1251, doi. 10.1007/s00467-006-0176-5
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- Publication type:
- Article
Invariant natural killer T cells are not affected by lysosomal storage in patients with Niemann- Pick disease type C.
- Published in:
- European Journal of Immunology, 2012, v. 42, n. 7, p. 1886, doi. 10.1002/eji.201141821
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- Publication type:
- Article
Plasma Lysosphingomyelin Demonstrates Great Potential as a Diagnostic Biomarker for Niemann-Pick Disease Type C in a Retrospective Study.
- Published in:
- PLoS ONE, 2014, v. 9, n. 12, p. 1, doi. 10.1371/journal.pone.0114669
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- Publication type:
- Article
A retrospective study of morbidity and mortality of chronic acid sphingomyelinase deficiency in Germany.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03174-1
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- Publication type:
- Article
Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of olipudase alfa treatment: open-label extension of the ASCEND trial.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02983-0
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- Publication type:
- Article
Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann–Pick disease types A, B and A/B).
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02686-6
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- Publication type:
- Article
Correction : Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results.
- Published in:
- 2023
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- Publication type:
- Correction Notice
The patient journey of patients with Fabry disease, Gaucher disease and Mucopolysaccharidosis type II: A German-wide telephone survey.
- Published in:
- PLoS ONE, 2020, v. 15, n. 12, p. 1, doi. 10.1371/journal.pone.0244279
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- Publication type:
- Article
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.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0284-z
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- Publication type:
- Article
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.
- Published in:
- 2015
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- Publication type:
- journal article
Niemann-Pick disease type C symptomatology: an expert-based clinical description.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-166
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- Publication type:
- Article
Functional and genetic characterization of the non-lysosomal glucosylceramidase 2 as a modifier for Gaucher disease.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-151
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- Publication type:
- Article
Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-35
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- Publication type:
- Article
Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators.
- Published in:
- 2013
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- Publication type:
- journal article
Functional and genetic characterization of the non-lysosomal glucosylceramidase 2 as a modifier for Gaucher disease.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Niemann-Pick disease type C symptomatology: an expert-based clinical description.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Disease and patient characteristics in NP-C patients: findings from an international disease registry.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-12
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- Publication type:
- Article
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.
- Published in:
- 2012
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- Publication type:
- journal article
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.
- Published in:
- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 86, doi. 10.1186/1750-1172-7-86
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- Publication type:
- Article
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.
- Published in:
- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 35, doi. 10.1186/1750-1172-7-35
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- Publication type:
- Article
Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure.
- Published in:
- 2011
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- Publication type:
- journal article
Efficacy and outcome of expanded newborn screening for metabolic diseases--report of 10 years from South-West Germany.
- Published in:
- 2011
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- Publication type:
- journal article
Relative acidic compartment volume as a lysosomal storage disorder-associated biomarker.
- Published in:
- 2014
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- Publication type:
- journal article
Relative acidic compartment volume as a lysosomal storage disorder-associated biomarker.
- Published in:
- Journal of Clinical Investigation, 2014, v. 124, n. 3, p. 1320, doi. 10.1172/JCI72835
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- Publication type:
- Article
Obituary for Professor Michael Beck (1947–2022).
- Published in:
- 2023
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- Publication type:
- Obituary
Efficacy and safety of arimoclomol in Niemann‐Pick disease type C: Results from a double‐blind, randomised, placebo‐controlled, multinational phase 2/3 trial of a novel treatment.
- Published in:
- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 6, p. 1463, doi. 10.1002/jimd.12428
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- Publication type:
- Article
Quantitative retrospective natural history modeling for orphan drug development.
- Published in:
- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 1, p. 99, doi. 10.1002/jimd.12304
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- Publication type:
- Article
The definition of neuronopathic Gaucher disease.
- Published in:
- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 5, p. 1056, doi. 10.1002/jimd.12235
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- Publication type:
- Article
Treatment with pentosan polysulphate in patients with MPS I: results from an open label, randomized, monocentric phase II study.
- Published in:
- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 6, p. 831, doi. 10.1007/s10545-016-9974-5
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- Publication type:
- Article
Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 1, p. 115, doi. 10.1007/s10545-015-9860-6
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- Publication type:
- Article
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.
- Published in:
- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 6, p. 979, doi. 10.1007/s10545-014-9715-6
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- Publication type:
- Article
Mucopolysaccharidosis VI: cardiac involvement and the impact of enzyme replacement therapy.
- Published in:
- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 2, p. 269, doi. 10.1007/s10545-013-9649-4
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- Publication type:
- Article
Craniocervical decompression in patients with mucopolysaccharidosis VI: development of a scoring system to determine indication and outcome of surgery.
- Published in:
- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 6, p. 1005, doi. 10.1007/s10545-013-9591-5
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- Publication type:
- Article
The cognitive profile of type 1 Gaucher disease patients.
- Published in:
- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 6, p. 1093, doi. 10.1007/s10545-012-9460-7
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- Publication type:
- Article
Clinical characteristics of adults with slowly progressing mucopolysaccharidosis VI: a case series.
- Published in:
- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 6, p. 1071, doi. 10.1007/s10545-012-9474-1
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- Publication type:
- Article
36 months observational clinical study of 38 adult Pompe disease patients under alglucosidase alfa enzyme replacement therapy.
- Published in:
- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 5, p. 837, doi. 10.1007/s10545-012-9451-8
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- Publication type:
- Article
Gastrointestinal disturbances and their management in miglustat-treated patients.
- Published in:
- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 5, p. 991, doi. 10.1007/s10545-011-9368-7
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- Publication type:
- Article
Four-year follow-up of chronic neuronopathic Gaucher disease in Europeans using a modified severity scoring tool.
- Published in:
- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 5, p. 1053, doi. 10.1007/s10545-011-9347-z
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- Publication type:
- Article
Presenting signs and patient co‐variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Consensus (GED‐C) Delphi initiative.
- Published in:
- Internal Medicine Journal, 2019, v. 49, n. 5, p. 578, doi. 10.1111/imj.14156
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- Publication type:
- Article
Paediatric non-neuronopathic Gaucher disease: recommendations for treatment and monitoring.
- Published in:
- 2004
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- Publication type:
- journal article
Pediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment. Consensus statements.
- Published in:
- European Journal of Pediatrics, 2004, v. 163, n. 2, p. 58
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- Publication type:
- Article
Oculomotor and Vestibular Findings in gaucher Disease Type 3 and Their correlation with neurological Findings.
- Published in:
- Frontiers in Neurology, 2018, p. 1, doi. 10.3389/fneur.2017.00711
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- Publication type:
- Article
Heart and Cardiovascular Involvement in Patients with Mucopolysaccharidosis Type IVA (Morquio-A Syndrome).
- Published in:
- PLoS ONE, 2016, v. 11, n. 9, p. 1, doi. 10.1371/journal.pone.0162612
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- Publication type:
- Article