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Hematopoietic stem cell and gene therapy corrects primary neuropathology and behavior in mucopolysaccharidosis IIIA mice

Molecular therapy, 2012-08, Vol.20 (8), p.1610-1621

2012

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Development of a suspicion index to aid diagnosis of Niemann-Pick disease type C

Neurology, 2012-05, Vol.78 (20), p.1560-1567

2012

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Study of Telomere Length Reveals Rapid Aging of Human Marrow Stromal Cells following In Vitro Expansion

Stem cells (Dayton, Ohio), 2004-09, Vol.22 (5), p.675-682

2004

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Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy

European journal of pediatrics, 2008-03, Vol.167 (3), p.267-277

2008

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Detection of inborn errors of metabolism in the newborn

Archives of Disease in Childhood. Fetal and Neonatal Edition, 2001-05, Vol.84 (3), p.F205-F210

2001

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A small proportion of mesenchymal stem cells strongly expresses functionally active CXCR4 receptor capable of promoting migration to bone marrow

Blood, 2004-11, Vol.104 (9), p.2643-2645

2004

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Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome

Genetics in medicine, 2011-02, Vol.13 (2), p.95-101

2011

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Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease

Genetics in medicine, 2009-03, Vol.11 (3), p.210-219

2009

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Miglustat in patients with Niemann-Pick disease Type C (NP-C): A multicenter observational retrospective cohort study

Molecular genetics and metabolism, 2009-11, Vol.98 (3), p.243-249

2009

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Initial report from the Hunter Outcome Survey

Genetics in medicine, 2008-07, Vol.10 (7), p.508-516

2008

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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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Clinical presentation and follow-up of patients with the attenuated phenotype of mucopolysaccharidosis type I

Acta pædiatrica (Oslo), 2005-07, Vol.94 (7), p.872-877

2005

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Relative acidic compartment volume as a lysosomal storage disorder-associated biomarker

The Journal of clinical investigation, 2014-03, Vol.124 (3), p.1320-1328

2014

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Safety and Efficacy of Enzyme Replacement Therapy with Agalsidase Beta: An International, Open-label Study in Pediatric Patients with Fabry Disease

The Journal of pediatrics, 2008-04, Vol.152 (4), p.563-570.e1

2008

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Mortality and cause of death in mucopolysaccharidosis type II—a historical review based on data from the Hunter Outcome Survey (HOS)

Journal of inherited metabolic disease, 2009-08, Vol.32 (4), p.534-543

2009

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Natural history of Niemann-Pick disease type C in a multicentre observational retrospective cohort study

Molecular genetics and metabolism, 2009-11, Vol.98 (3), p.250-254

2009

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Mutations in VPS33B , encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome

Nature genetics, 2004-04, Vol.36 (4), p.400-404

2004

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The natural history of Niemann–Pick disease type C in the UK

Journal of inherited metabolic disease, 2007-02, Vol.30 (1), p.51-59

2007

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Developmental outcome post allogenic bone marrow transplant for Niemann Pick Type C2

Molecular genetics and metabolism, 2013-01, Vol.108 (1), p.82-84

2013

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The cblD Defect Causes Either Isolated or Combined Deficiency of Methylcobalamin and Adenosylcobalamin Synthesis

The Journal of biological chemistry, 2004-10, Vol.279 (41), p.42742-42749

2004

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Sleep disturbance in Sanfilippo syndrome: a parental questionnaire study

Archives of disease in childhood, 2005-12, Vol.90 (12), p.1239-1242

2005

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Threshold effect of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)

American journal of medical genetics. Part A, 2005-04, Vol.134A (2), p.144-150

2005

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Hyperactive behaviour in the mouse model of mucopolysaccharidosis IIIB in the open field and home cage environments

Genes, brain and behavior, 2011-08, Vol.10 (6), p.673-682

2011

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Enzyme replacement therapy in mucopolysaccharidosis type I: Progress and emerging difficulties

Journal of inherited metabolic disease, 2001-04, Vol.24 (2), p.245-250

Wraith, J. E.

2001

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Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene

Nature genetics, 1997-10, Vol.17 (2), p.190-193

1997

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Hematopoietic stem cell and gene therapy corrects primary neuropathology and behavior in mucopolysaccharidosis IIIA mice

Development of a suspicion index to aid diagnosis of Niemann-Pick disease type C

Study of Telomere Length Reveals Rapid Aging of Human Marrow Stromal Cells following In Vitro Expansion

Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy

Detection of inborn errors of metabolism in the newborn

A small proportion of mesenchymal stem cells strongly expresses functionally active CXCR4 receptor capable of promoting migration to bone marrow

Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome

Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease

Miglustat in patients with Niemann-Pick disease Type C (NP-C): A multicenter observational retrospective cohort study

Initial report from the Hunter Outcome Survey

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

Clinical presentation and follow-up of patients with the attenuated phenotype of mucopolysaccharidosis type I

Relative acidic compartment volume as a lysosomal storage disorder-associated biomarker

Safety and Efficacy of Enzyme Replacement Therapy with Agalsidase Beta: An International, Open-label Study in Pediatric Patients with Fabry Disease

Mortality and cause of death in mucopolysaccharidosis type II—a historical review based on data from the Hunter Outcome Survey (HOS)

Natural history of Niemann-Pick disease type C in a multicentre observational retrospective cohort study

Mutations in VPS33B , encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome

The natural history of Niemann–Pick disease type C in the UK

Developmental outcome post allogenic bone marrow transplant for Niemann Pick Type C2

The cblD Defect Causes Either Isolated or Combined Deficiency of Methylcobalamin and Adenosylcobalamin Synthesis

Sleep disturbance in Sanfilippo syndrome: a parental questionnaire study

Threshold effect of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)

Hyperactive behaviour in the mouse model of mucopolysaccharidosis IIIB in the open field and home cage environments

Enzyme replacement therapy in mucopolysaccharidosis type I: Progress and emerging difficulties

Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene

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