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Gaucher disease: Basic and translational science needs for more complete therapy and management

Molecular genetics and metabolism, 2021-02, Vol.132 (2), p.59-75

2021

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Long-term follow-up after gene therapy for canavan disease

Science translational medicine, 2012-12, Vol.4 (165), p.165ra163

2012

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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.229-240

2009

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Fabry disease - underestimated in the differential diagnosis of multiple sclerosis?

PloS one, 2013-08, Vol.8 (8), p.e71894-e71894

2013

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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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Skeletal Muscle in Healthy Subjects versus Those with GNE-Related Myopathy: Evaluation with Shear-Wave US--A Pilot Study

Radiology, 2015-11, Vol.277 (2), p.546-554

2015

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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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Biosensors for brain trauma and dual laser doppler flowmetry: enoxaparin simultaneously reduces stroke-induced dopamine and blood flow while enhancing serotonin and blood flow in motor neurons of brain, in vivo

Sensors (Basel, Switzerland), 2011-01, Vol.11 (1), p.138-161

2011

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Hematopoietic Stem-Cell Transplantation in Globoid-Cell Leukodystrophy

The New England journal of medicine, 1998-04, Vol.338 (16), p.1119-1127

1998

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p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease?

European journal of human genetics : EJHG, 2008-08, Vol.16 (8), p.875-879

2008

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GM1-gangliosidosis in American black bears: Clinical, pathological, biochemical and molecular genetic characterization

Molecular genetics and metabolism, 2014-04, Vol.111 (4), p.513-521

2014

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Clinical Phenotypes of Different MPZ (P 0) Mutations May Include Charcot–Marie–Tooth Type 1B, Dejerine–Sottas, and Congenital Hypomyelination

Neuron (Cambridge, Mass.), 1996-09, Vol.17 (3), p.451-460

1996

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Long-term hematological, visceral, and growth outcomes in children with Gaucher disease type 3 treated with imiglucerase in the International Collaborative Gaucher Group Gaucher Registry

Molecular genetics and metabolism, 2017-01, Vol.120 (1-2), p.47-56

2017

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The enigma of the E326K mutation in acid β-glucocerebrosidase

Molecular genetics and metabolism, 2011-09, Vol.104 (1-2), p.35-38

2011

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Transformation in pretreatment manifestations of Gaucher disease type 1 during two decades of alglucerase/imiglucerase enzyme replacement therapy in the International Collaborative Gaucher Group (ICGG) Gaucher Registry

American journal of hematology, 2017-09, Vol.92 (9), p.929-939

2017

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Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human α-L-iduronidase (laronidase)

The Journal of pediatrics, 2004-05, Vol.144 (5), p.581-588

2004

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Miglustat in late-onset Tay-Sachs disease: a 12-month, randomized, controlled clinical study with 24 months of extended treatment

Genetics in medicine, 2009-06, Vol.11 (6), p.425-433

2009

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An open-label Phase I/II clinical trial of pyrimethamine for the treatment of patients affected with chronic GM2 gangliosidosis (Tay–Sachs or Sandhoff variants)

Molecular genetics and metabolism, 2011-01, Vol.102 (1), p.6-12

2011

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Effectiveness of Enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: A report from the Gaucher registry

The American journal of medicine, 2002-08, Vol.113 (2), p.112-119

2002

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Real Time Imaging of Biomarkers in the Parkinson's Brain Using Mini-Implantable Biosensors. II. Pharmaceutical Therapy with Bromocriptine

Pharmaceuticals (Basel, Switzerland), 2009-12, Vol.2 (3), p.236-249

2009

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Tay-Sachs disease in Jacob sheep

Molecular genetics and metabolism, 2010-12, Vol.101 (4), p.357-363

2010

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Acute Confusional Migraine May Be a Presenting Feature of CADASIL

Headache, 2009-04, Vol.49 (4), p.590-596

2009

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Enzyme replacement therapy improves cardiovascular responses to orthostatic challenge in Fabry patients

Journal of hypertension, 2010-07, Vol.28 (7), p.1438-1448

2010

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Metronomic breathing shows altered parasympathetic baroreflex function in untreated Fabry patients and baroreflex improvement after enzyme replacement therapy

Journal of hypertension, 2011-12, Vol.29 (12), p.2387-2394

2011

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Gaucher disease: Basic and translational science needs for more complete therapy and management

Long-term follow-up after gene therapy for canavan disease

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

Fabry disease - underestimated in the differential diagnosis of multiple sclerosis?

Newborn Screening for Krabbe Disease: the New York State Model

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

Skeletal Muscle in Healthy Subjects versus Those with GNE-Related Myopathy: Evaluation with Shear-Wave US--A Pilot Study

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

Biosensors for brain trauma and dual laser doppler flowmetry: enoxaparin simultaneously reduces stroke-induced dopamine and blood flow while enhancing serotonin and blood flow in motor neurons of brain, in vivo

Hematopoietic Stem-Cell Transplantation in Globoid-Cell Leukodystrophy

p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease?

GM1-gangliosidosis in American black bears: Clinical, pathological, biochemical and molecular genetic characterization

Clinical Phenotypes of Different MPZ (P 0) Mutations May Include Charcot–Marie–Tooth Type 1B, Dejerine–Sottas, and Congenital Hypomyelination

Long-term hematological, visceral, and growth outcomes in children with Gaucher disease type 3 treated with imiglucerase in the International Collaborative Gaucher Group Gaucher Registry

The enigma of the E326K mutation in acid β-glucocerebrosidase

Transformation in pretreatment manifestations of Gaucher disease type 1 during two decades of alglucerase/imiglucerase enzyme replacement therapy in the International Collaborative Gaucher Group (ICGG) Gaucher Registry

Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human α-L-iduronidase (laronidase)

Miglustat in late-onset Tay-Sachs disease: a 12-month, randomized, controlled clinical study with 24 months of extended treatment

An open-label Phase I/II clinical trial of pyrimethamine for the treatment of patients affected with chronic GM2 gangliosidosis (Tay–Sachs or Sandhoff variants)

Effectiveness of Enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: A report from the Gaucher registry

Real Time Imaging of Biomarkers in the Parkinson's Brain Using Mini-Implantable Biosensors. II. Pharmaceutical Therapy with Bromocriptine

Tay-Sachs disease in Jacob sheep

Acute Confusional Migraine May Be a Presenting Feature of CADASIL

Enzyme replacement therapy improves cardiovascular responses to orthostatic challenge in Fabry patients

Metronomic breathing shows altered parasympathetic baroreflex function in untreated Fabry patients and baroreflex improvement after enzyme replacement therapy

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