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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

2012

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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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Treatment of infantile Pompe disease with alglucosidase alpha: the UK experience

Journal of inherited metabolic disease, 2010-12, Vol.33 (6), p.747-750

2010

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Outcomes of hematopoietic stem cell transplantation for Hurler's syndrome in Europe: a risk factor analysis for graft failure

Bone marrow transplantation (Basingstoke), 2007-08, Vol.40 (3), p.225-233

2007

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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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Female mucopolysaccharidosis IIIA mice exhibit hyperactivity and a reduced sense of danger in the open field test

PloS one, 2011-10, Vol.6 (10), p.e25717-e25717

2011

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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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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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Hematopoietic stem cell transplantation improves the high incidence of neutralizing allo-antibodies observed in Hurler’s syndrome after pharmacological enzyme replacement therapy

Haematologica (Roma), 2012-09, Vol.97 (9), p.1320-1328

2012

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Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapy

Journal of inherited metabolic disease, 2013-03, Vol.36 (2), p.385-394

2013

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Effects of enzyme replacement therapy on growth in patients with mucopolysaccharidosis type II

Journal of inherited metabolic disease, 2011-02, Vol.34 (1), p.203-208

2011

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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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Haematopoietic cell transplantation (HCT) in combination with enzyme replacement therapy (ERT) in patients with Hurler syndrome

Bone marrow transplantation (Basingstoke), 2006-07, Vol.38 (1), p.17-21

2006

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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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Mucopolysaccharidosis type I

Pediatric endocrinology reviews : PER, 2014-09, Vol.12 Suppl 1, p.102

2014

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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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Long‐term follow‐up following bone marrow transplantation for Hunter disease

Journal of inherited metabolic disease, 1999-06, Vol.22 (5), p.638-648

1999

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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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The mucopolysaccharidoses: a clinical review and guide to management

Archives of Disease in Childhood, 1995-03, Vol.72 (3), p.263-267

Wraith, J E

1995

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Home treatment with Elaprase® and Naglazyme® is safe in patients with mucopolysaccharidoses types II and VI, respectively

Journal of inherited metabolic disease, 2008-12, Vol.31 (6), p.733-737

2008

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Enzyme replacement therapy in 12 patients with MPS I-H/S with homozygous p.Leu490Pro mutation

Journal of inherited metabolic disease, 2007-10, Vol.30 (5), p.821-821

2007

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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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Effect of discontinuing of laronidase in a patient with mucopolysaccharidosis type I

Journal of inherited metabolic disease, 2006-02, Vol.29 (1), p.230-231

2006

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Limitations of enzyme replacement therapy: Current and future

Journal of inherited metabolic disease, 2006-04, Vol.29 (2-3), p.442-447

Wraith, J. E.

2006

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

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

Treatment of infantile Pompe disease with alglucosidase alpha: the UK experience

Outcomes of hematopoietic stem cell transplantation for Hurler's syndrome in Europe: a risk factor analysis for graft failure

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

Female mucopolysaccharidosis IIIA mice exhibit hyperactivity and a reduced sense of danger in the open field test

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

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

Hematopoietic stem cell transplantation improves the high incidence of neutralizing allo-antibodies observed in Hurler’s syndrome after pharmacological enzyme replacement therapy

Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapy

Effects of enzyme replacement therapy on growth in patients with mucopolysaccharidosis type II

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

Haematopoietic cell transplantation (HCT) in combination with enzyme replacement therapy (ERT) in patients with Hurler syndrome

Sleep disturbance in Sanfilippo syndrome: a parental questionnaire study

Mucopolysaccharidosis type I

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

Long‐term follow‐up following bone marrow transplantation for Hunter disease

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

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

The mucopolysaccharidoses: a clinical review and guide to management

Home treatment with Elaprase® and Naglazyme® is safe in patients with mucopolysaccharidoses types II and VI, respectively

Enzyme replacement therapy in 12 patients with MPS I-H/S with homozygous p.Leu490Pro mutation

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

Effect of discontinuing of laronidase in a patient with mucopolysaccharidosis type I

Limitations of enzyme replacement therapy: Current and future

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