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Type II NKT-TFH cells against Gaucher lipids regulate B-cell immunity and inflammation

Blood, 2015-02, Vol.125 (8), p.1256-1271

2015

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Taliglucerase alfa: safety and efficacy across 6 clinical studies in adults and children with Gaucher disease

Orphanet journal of rare diseases, 2018-02, Vol.13 (1), p.36-36, Article 36

2018

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Long-term efficacy and safety of laronidase in the treatment of mucopolysaccharidosis I

Pediatrics (Evanston), 2009-01, Vol.123 (1), p.229

2009

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A phase 2 study of eliglustat tartrate (Genz-112638), an oral substrate reduction therapy for Gaucher disease type 1

Blood, 2010-08, Vol.116 (6), p.893-899

2010

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Gene-wise association of variants in four lysosomal storage disorder genes in neuropathologically confirmed Lewy body disease

PloS one, 2015-05, Vol.10 (5), p.e0125204-e0125204

2015

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Eliglustat for Gaucher's disease: trippingly on the tongue

The Lancet (British edition), 2015-06, Vol.385 (9985), p.2328-2330

2015

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Therapeutic goals in the treatment of Gaucher disease

Seminars in hematology, 2004-10, Vol.41 (4 Suppl 5), p.4-14

2004

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The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients

American journal of hematology, 2009-04, Vol.84 (4), p.208-214

2009

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Non-neuronopathic lysosomal storage disorders: Disease spectrum and treatments

Baillière's best practice & research. Clinical endocrinology & metabolism, 2015-03, Vol.29 (2), p.173-182

2015

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Effects of enzyme replacement therapy in Fabry disease—A comprehensive review of the medical literature

Genetics in medicine, 2010-11, Vol.12 (11), p.668-679

2010

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Design, baseline characteristics, and early findings of the MPS VI (mucopolysaccharidosis VI) Clinical Surveillance Program (CSP)

Journal of inherited metabolic disease, 2013-03, Vol.36 (2), p.373-384

2013

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Recombinant Glucocerebrosidase (Imiglucerase) as a Therapy for Gaucher Disease

BioDrugs : clinical immunotherapeutics, biopharmaceuticals, and gene therapy, 2010-02, Vol.24 (1), p.41-47

Pastores, Gregory M.

2010

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Lysosomal storage disorders: Clinical and therapeutic aspects

Handbook of clinical neurology, 2023-01, Vol.196, p.557-567

Pastores, Gregory M

2023

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An open-label, noncomparative study of miglustat in type I Gaucher disease: Efficacy and tolerability over 24 months of treatment

Clinical therapeutics, 2005-08, Vol.27 (8), p.1215-1227

2005

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Effect of Miglustat on Bone Disease in Adults with Type 1 Gaucher Disease: A Pooled Analysis of Three Multinational, Open-Label Studies

Clinical therapeutics, 2007-08, Vol.29 (8), p.1645-1654

2007

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Chitinase-3-like Protein 1: A Progranulin Downstream Molecule and Potential Biomarker for Gaucher Disease

EBioMedicine, 2018-02, Vol.28 (C), p.251-260

2018

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Four-Year Prospective Clinical Trial of Agalsidase Alfa in Children with Fabry Disease

The Journal of pediatrics, 2010-05, Vol.156 (5), p.832-837.e1

2010

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Glucosylsphingosine is a key biomarker of Gaucher disease

American journal of hematology, 2016-11, Vol.91 (11), p.1082-1089

2016

Volltextzugriff (PDF)

Abnormal N‐glycan fucosylation, galactosylation, and sialylation of IgG in adults with classical galactosemia, influence of dietary galactose intake

JIMD reports, 2021-09, Vol.61 (1), p.76-88

2021

Volltextzugriff (PDF)

Genome-wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variation

American journal of hematology, 2012-04, Vol.87 (4), p.377-383

2012

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Metallosis mimicking a metabolic disorder: a case report

Molecular genetics and metabolism reports, 2018-12, Vol.17, p.38-41

2018

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Musculoskeletal complications encountered in the lysosomal storage disorders

Best practice & research. Clinical rheumatology, 2008-10, Vol.22 (5), p.937-947

Pastores, Gregory M., MD

2008

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Lysosomal Acid Lipase Deficiency: Therapeutic Options

Drug design, development and therapy, 2020-01, Vol.14, p.591-601

2020

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Neurocognitive assessments and long-term outcome in an adult with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency

Molecular genetics and metabolism reports, 2018-09, Vol.16, p.31-35

2018

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Late-onset Tay-Sachs disease: Phenotypic characterization and genotypic correlations in 21 affected patients

Genetics in medicine, 2005-02, Vol.7 (2), p.119-123

2005

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Type II NKT-TFH cells against Gaucher lipids regulate B-cell immunity and inflammation

Taliglucerase alfa: safety and efficacy across 6 clinical studies in adults and children with Gaucher disease

Long-term efficacy and safety of laronidase in the treatment of mucopolysaccharidosis I

A phase 2 study of eliglustat tartrate (Genz-112638), an oral substrate reduction therapy for Gaucher disease type 1

Gene-wise association of variants in four lysosomal storage disorder genes in neuropathologically confirmed Lewy body disease

Eliglustat for Gaucher's disease: trippingly on the tongue

Therapeutic goals in the treatment of Gaucher disease

The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients

Non-neuronopathic lysosomal storage disorders: Disease spectrum and treatments

Effects of enzyme replacement therapy in Fabry disease—A comprehensive review of the medical literature

Design, baseline characteristics, and early findings of the MPS VI (mucopolysaccharidosis VI) Clinical Surveillance Program (CSP)

Recombinant Glucocerebrosidase (Imiglucerase) as a Therapy for Gaucher Disease

Lysosomal storage disorders: Clinical and therapeutic aspects

An open-label, noncomparative study of miglustat in type I Gaucher disease: Efficacy and tolerability over 24 months of treatment

Effect of Miglustat on Bone Disease in Adults with Type 1 Gaucher Disease: A Pooled Analysis of Three Multinational, Open-Label Studies

Chitinase-3-like Protein 1: A Progranulin Downstream Molecule and Potential Biomarker for Gaucher Disease

Four-Year Prospective Clinical Trial of Agalsidase Alfa in Children with Fabry Disease

Glucosylsphingosine is a key biomarker of Gaucher disease

Abnormal N‐glycan fucosylation, galactosylation, and sialylation of IgG in adults with classical galactosemia, influence of dietary galactose intake

Genome-wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variation

Metallosis mimicking a metabolic disorder: a case report

Musculoskeletal complications encountered in the lysosomal storage disorders

Lysosomal Acid Lipase Deficiency: Therapeutic Options

Neurocognitive assessments and long-term outcome in an adult with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency

Late-onset Tay-Sachs disease: Phenotypic characterization and genotypic correlations in 21 affected patients

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