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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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Risk stratification at diagnosis for children with hypertrophic cardiomyopathy: an analysis of data from the Pediatric Cardiomyopathy Registry

The Lancet (British edition), 2013-12, Vol.382 (9908), p.1889-1897

2013

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Successful within-patient dose escalation of olipudase alfa in acid sphingomyelinase deficiency

Molecular genetics and metabolism, 2015-09, Vol.116 (1-2), p.88-97

2015

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Outcomes in children with Noonan syndrome and hypertrophic cardiomyopathy: A study from the Pediatric Cardiomyopathy Registry

The American heart journal, 2012-09, Vol.164 (3), p.442-448

2012

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Improved gene therapy for spinal muscular atrophy in mice using codon-optimized hSMN1 transgene and hSMN1 gene-derived promotor

EMBO molecular medicine, 2024-04, Vol.16 (4), p.945-965

2024

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Intracytoplasmic Sperm Injection May Increase the Risk of Imprinting Defects

American journal of human genetics, 2002-07, Vol.71 (1), p.162-164

2002

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Patient and caregiver perspectives on burden of disease manifestations in late-onset Tay-Sachs and Sandhoff diseases

Orphanet journal of rare diseases, 2020-04, Vol.15 (1), p.92-92, Article 92

2020

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The Incidence of Pediatric Cardiomyopathy in Two Regions of the United States

The New England journal of medicine, 2003-04, Vol.348 (17), p.1647-1655

2003

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Monoallelic expression of the human FOXP2 speech gene

Proceedings of the National Academy of Sciences - PNAS, 2015-06, Vol.112 (22), p.6848-6854

2015

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CAN008 prolongs overall survival in patients with newly diagnosed GBM characterized by high tumor mutational burden

Biomedical Journal, 2024-08, Vol.47 (4), p.100660, Article 100660

2024

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Characteristics and outcomes of cardiomyopathy in children with Duchenne or Becker muscular dystrophy: A comparative study from the Pediatric Cardiomyopathy Registry

The American heart journal, 2008-06, Vol.155 (6), p.998-1005

2008

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The art and science of choosing efficacy endpoints for rare disease clinical trials

American journal of medical genetics. Part A, 2018-04, Vol.176 (4), p.759-772

Cox, Gerald F.

2018

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Intravenous 2-hydroxypropyl-β-cyclodextrin (Trappsol® Cyclo™) demonstrates biological activity and impacts cholesterol metabolism in the central nervous system and peripheral tissues in adult subjects with Niemann-Pick Disease Type C1: Results of a phase 1 trial

Molecular genetics and metabolism, 2022-12, Vol.137 (4), p.309-319

2022

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Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion

PloS one, 2011-08, Vol.6 (8), p.e22861

2011

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The Pediatric Cardiomyopathy Registry and Heart Failure: Key Results from the First 15 Years

Heart failure clinics, 2010-10, Vol.6 (4), p.401-413

2010

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Effects of paroxetine, ketoconazole, and rifampin on the metabolism of eliglustat, an oral substrate reduction therapy for Gaucher disease type 1

Molecular genetics and metabolism reports, 2020-03, Vol.22, p.100552, Article 100552

2020

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Can mucopolysaccharidosis type I disease severity be predicted based on a patient's genotype? A comprehensive review of the literature

Genetics in medicine, 2003-07, Vol.5 (4), p.286-294

2003

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Clinical outcome assessments of disease burden and progression in late-onset GM2 gangliosidoses

Molecular genetics and metabolism, 2024-07, Vol.142 (3), p.108512, Article 108512

2024

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Immune tolerance induction for laronidase treatment in mucopolysaccharidosis I

Molecular genetics and metabolism reports, 2017-03, Vol.10 (C), p.61-66

2017

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Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases

Molecular genetics and metabolism, 2016-07, Vol.118 (3), p.206-213

2016

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Incidence, causes, and outcomes of dilated cardiomyopathy in children

JAMA : the journal of the American Medical Association, 2006-10, Vol.296 (15), p.1867

2006

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Japan Elaprase ® Treatment (JET) study: Idursulfase enzyme replacement therapy in adult patients with attenuated Hunter syndrome (Mucopolysaccharidosis II, MPS II)

Molecular genetics and metabolism, 2010, Vol.99 (1), p.18-25

2010

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Plasma glucosylsphingosine correlations with baseline disease burden and response to eliglustat in two clinical trials of previously untreated adults with Gaucher disease type 1

Molecular genetics and metabolism, 2023-03, Vol.138 (3), p.107527-107527, Article 107527

2023

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Epidemiology and cause-specific outcome of hypertrophic cardiomyopathy in children : Findings from the pediatric cardiomyopathy registry

Circulation (New York, N.Y.), 2007-02, Vol.115 (6), p.773-781

2007

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A pooled analysis of adverse events in 393 adults with Gaucher disease type 1 from four clinical trials of oral eliglustat: Evaluation of frequency, timing, and duration

Blood cells, molecules, & diseases, 2018-02, Vol.68, p.185-191

2018

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

Risk stratification at diagnosis for children with hypertrophic cardiomyopathy: an analysis of data from the Pediatric Cardiomyopathy Registry

Successful within-patient dose escalation of olipudase alfa in acid sphingomyelinase deficiency

Outcomes in children with Noonan syndrome and hypertrophic cardiomyopathy: A study from the Pediatric Cardiomyopathy Registry

Improved gene therapy for spinal muscular atrophy in mice using codon-optimized hSMN1 transgene and hSMN1 gene-derived promotor

Intracytoplasmic Sperm Injection May Increase the Risk of Imprinting Defects

Patient and caregiver perspectives on burden of disease manifestations in late-onset Tay-Sachs and Sandhoff diseases

The Incidence of Pediatric Cardiomyopathy in Two Regions of the United States

Monoallelic expression of the human FOXP2 speech gene

CAN008 prolongs overall survival in patients with newly diagnosed GBM characterized by high tumor mutational burden

Characteristics and outcomes of cardiomyopathy in children with Duchenne or Becker muscular dystrophy: A comparative study from the Pediatric Cardiomyopathy Registry

The art and science of choosing efficacy endpoints for rare disease clinical trials

Intravenous 2-hydroxypropyl-β-cyclodextrin (Trappsol® Cyclo™) demonstrates biological activity and impacts cholesterol metabolism in the central nervous system and peripheral tissues in adult subjects with Niemann-Pick Disease Type C1: Results of a phase 1 trial

Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion

The Pediatric Cardiomyopathy Registry and Heart Failure: Key Results from the First 15 Years

Effects of paroxetine, ketoconazole, and rifampin on the metabolism of eliglustat, an oral substrate reduction therapy for Gaucher disease type 1

Can mucopolysaccharidosis type I disease severity be predicted based on a patient's genotype? A comprehensive review of the literature

Clinical outcome assessments of disease burden and progression in late-onset GM2 gangliosidoses

Immune tolerance induction for laronidase treatment in mucopolysaccharidosis I

Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases

Incidence, causes, and outcomes of dilated cardiomyopathy in children

Japan Elaprase ® Treatment (JET) study: Idursulfase enzyme replacement therapy in adult patients with attenuated Hunter syndrome (Mucopolysaccharidosis II, MPS II)

Plasma glucosylsphingosine correlations with baseline disease burden and response to eliglustat in two clinical trials of previously untreated adults with Gaucher disease type 1

Epidemiology and cause-specific outcome of hypertrophic cardiomyopathy in children : Findings from the pediatric cardiomyopathy registry

A pooled analysis of adverse events in 393 adults with Gaucher disease type 1 from four clinical trials of oral eliglustat: Evaluation of frequency, timing, and duration

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