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Immunomodulatory, liver depot gene therapy for Pompe disease

Cellular immunology, 2019-08, Vol.342, p.103737-103737, Article 103737

2019

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Emerging therapies for glycogen storage disease type I

Trends in endocrinology and metabolism, 2009-07, Vol.20 (5), p.252-258

2009

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Divergent phenotypes in Gaucher disease implicate the role of modifiers

Journal of medical genetics, 2005-06, Vol.42 (6), p.e37-e37

2005

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Benzoate treatment and the glycine index in nonketotic hyperglycinaemia

Journal of inherited metabolic disease, 2005-01, Vol.28 (5), p.651-663

2005

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A role for plasma cell targeting agents in immune tolerance induction in autoimmune disease and antibody responses to therapeutic proteins

Clinical immunology (Orlando, Fla.), 2016-04, Vol.165, p.55-59

2016

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Evaluation of 3‐methylcrotonyl‐CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening

Journal of inherited metabolic disease, 2003-07, Vol.26 (1), p.25-35

2003

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Glycogen Storage Disease Type III diagnosis and management guidelines

Genetics in medicine, 2010-07, Vol.12 (7), p.446-463

2010

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Glycogen storage disease types I and II: Treatment updates

Journal of inherited metabolic disease, 2007-04, Vol.30 (2), p.159-164

2007

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P.025 Efficacy and safety results of the avalglucosidase alfa phase 3 COMET trial in participants with late-onset Pompe disease (LOPD)

Canadian journal of neurological sciences, 2021-11, Vol.48 (s3), p.S27-S27

2021

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Canine model and genomic structural organization of glycogen storage disease type Ia (GSD Ia)

Veterinary pathology, 2001-01, Vol.38 (1), p.83

2001

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HLA- and genotype-based risk assessment model to identify infantile onset pompe disease patients at high-risk of developing significant anti-drug antibodies (ADA)

Clinical immunology (Orlando, Fla.), 2019-03, Vol.200, p.66-70

2019

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Diagnostic and treatment challenges of neuronopathic Gaucher disease: Two cases with an intermediate phenotype

Journal of inherited metabolic disease, 2004, Vol.27 (5), p.687-690

2004

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Cardiac Pathology in Glycogen Storage Disease Type III

JIMD Reports - Case and Research Reports, 2012/3, 2012-01, Vol.6, p.65-72

2012

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Nutritional deficiencies in a patient with glycogen storage disease type Ib

Journal of inherited metabolic disease, 1999-10, Vol.22 (7), p.795-801

1999

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The use of acarbose inhibition in the measurement of acid alpha-glucosidase activity in blood lymphocytes for the diagnosis of Pompe disease

Genetics in medicine, 2006-05, Vol.8 (5), p.307-312

2006

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The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: lessons learned from infantile Pompe disease

Genetics in medicine, 2011-08, Vol.13 (8), p.729-736

2011

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The emerging phenotype of long-term survivors with infantile Pompe disease

Genetics in medicine, 2012-09, Vol.14 (9), p.800-810

2012

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Timing of diagnosis of patients with pompe disease: Data from the pompe registry

American journal of medical genetics. Part A, 2013-10, Vol.161A (10), p.2431-2443

2013

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Enhanced Response to Enzyme Replacement Therapy in Pompe Disease after the Induction of Immune Tolerance

American journal of human genetics, 2007-11, Vol.81 (5), p.1042-1049

2007

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Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics

Genetics in medicine, 2014-11, Vol.16 (11), p.e1-e1

2014

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Bortezomib in the rapid reduction of high sustained antibody titers in disorders treated with therapeutic protein: lessons learned from Pompe disease

Genetics in medicine, 2013-02, Vol.15 (2), p.123-131

2013

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P.39 Diet therapy for GSD XV: a rare disorder of glycogen synthesis with variable phenotype

Molecular genetics and metabolism, 2024-04, Vol.141, p.108405, Article 108405

2024

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Long-term monitoring of patients with infantile-onset Pompe disease on enzyme replacement therapy using a urinary glucose tetrasaccharide biomarker

Genetics in medicine, 2009-07, Vol.11 (7), p.536-541

2009

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Further understanding the connection between Alzheimer's disease and Down syndrome

Alzheimer's & dementia, 2020-07, Vol.16 (7), p.1065-1077

2020

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Molecular analysis of the AGL gene: Identification of 25 novel mutations and evidence of genetic heterogeneity in patients with Glycogen Storage Disease Type III

Genetics in medicine, 2010-07, Vol.12 (7), p.424-430

2010

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Immunomodulatory, liver depot gene therapy for Pompe disease

Emerging therapies for glycogen storage disease type I

Divergent phenotypes in Gaucher disease implicate the role of modifiers

Benzoate treatment and the glycine index in nonketotic hyperglycinaemia

A role for plasma cell targeting agents in immune tolerance induction in autoimmune disease and antibody responses to therapeutic proteins

Evaluation of 3‐methylcrotonyl‐CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening

Glycogen Storage Disease Type III diagnosis and management guidelines

Glycogen storage disease types I and II: Treatment updates

P.025 Efficacy and safety results of the avalglucosidase alfa phase 3 COMET trial in participants with late-onset Pompe disease (LOPD)

Canine model and genomic structural organization of glycogen storage disease type Ia (GSD Ia)

HLA- and genotype-based risk assessment model to identify infantile onset pompe disease patients at high-risk of developing significant anti-drug antibodies (ADA)

Diagnostic and treatment challenges of neuronopathic Gaucher disease: Two cases with an intermediate phenotype

Cardiac Pathology in Glycogen Storage Disease Type III

Nutritional deficiencies in a patient with glycogen storage disease type Ib

The use of acarbose inhibition in the measurement of acid alpha-glucosidase activity in blood lymphocytes for the diagnosis of Pompe disease

The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: lessons learned from infantile Pompe disease

The emerging phenotype of long-term survivors with infantile Pompe disease

Timing of diagnosis of patients with pompe disease: Data from the pompe registry

Enhanced Response to Enzyme Replacement Therapy in Pompe Disease after the Induction of Immune Tolerance

Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics

Bortezomib in the rapid reduction of high sustained antibody titers in disorders treated with therapeutic protein: lessons learned from Pompe disease

P.39 Diet therapy for GSD XV: a rare disorder of glycogen synthesis with variable phenotype

Long-term monitoring of patients with infantile-onset Pompe disease on enzyme replacement therapy using a urinary glucose tetrasaccharide biomarker

Further understanding the connection between Alzheimer's disease and Down syndrome

Molecular analysis of the AGL gene: Identification of 25 novel mutations and evidence of genetic heterogeneity in patients with Glycogen Storage Disease Type III

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