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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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Farber lipogranulomatosis type 1 – Late presentation and early death in a Croatian boy with a novel homozygous ASAH1 mutation

European journal of paediatric neurology, 2011-03, Vol.15 (2), p.171-173

2011

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Niemann-Pick C1 Disease: Correlations between NPC1 Mutations, Levels of NPC1 Protein, and Phenotypes Emphasize the Functional Significance of the Putative Sterol-Sensing Domain and of the Cysteine-Rich Luminal Loop

American journal of human genetics, 2001-06, Vol.68 (6), p.1373-1385

2001

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Niemann-Pick Disease Type C: Spectrum of HE1 Mutations and Genotype/Phenotype Correlations in the NPC2 Group

American journal of human genetics, 2001-11, Vol.69 (5), p.1013-1021

2001

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Complementation studies in Niemann-Pick disease type C indicate the existence of a second group

Journal of medical genetics, 1994-04, Vol.31 (4), p.317-320

1994

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Argininosuccinate lyase: a new autoantigen in liver disease

Clinical and experimental immunology, 1998-12, Vol.114 (3), p.455-461

1998

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An adult with a non‐neuronopathic form of Niemann_Pick C disease

Journal of inherited metabolic disease, 1999-02, Vol.22 (1), p.84-86

1999

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Neurodegenerative course in ceramidase deficiency (Farber disease) correlates with the residual lysosomal ceramide turnover in cultured living patient cells

Journal of the neurological sciences, 1995-12, Vol.134 (1), p.108-114

1995

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Co‐cultivation of Niemann‐Pick disease type C fibroblasts belonging to complementation groupsα andβ stimulates LDL‐derived cholesterol esterification

Journal of inherited metabolic disease, 1996-01, Vol.19 (6), p.769-774

1996

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Sandhoff disease in Cyprus : population screening by biochemical and DNA analysis indicates a high frequency of carriers in the Maronite community

Human genetics, 2000-07, Vol.107 (1), p.12-17

2000

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Asymptomatic Cholesteryl Ester Storage Disease in an Adult Controlled with Simvastatin

Annals of clinical biochemistry, 1997-07, Vol.34 (4), p.433-436

1997

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Gaucher's disease in the United Kingdom: screening non-Jewish patients for the two common mutations

Journal of medical genetics, 1993-04, Vol.30 (4), p.280-283

1993

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4-methylumbelliferyl α-N-acetylglucosaminidase activity for diagnosis of Sanfilippo B disease

Clinical genetics, 1985-03, Vol.27 (3), p.258-262

1985

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X-linked adrenoleukodystrophy with non-diagnostic plasma very long chain fatty acids

Journal of neurology, neurosurgery and psychiatry, 1994-06, Vol.57 (6), p.759-761

1994

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Recent advances in the prenatal diagnosis of the mucopolysaccharidoses

Prenatal diagnosis, 1994-01, Vol.14 (1), p.1-12

1994

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Characterization of three alleles causing aspartylglycosaminuria : two from a British family and one from an American patient

Biochemical journal, 1993-03, Vol.290 (3), p.735-741

1993

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A simple method for screening for Farber disease on cultured skin fibroblasts

Clinica chimica acta, 1996-02, Vol.245 (1), p.61-71

1996

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

Journal of inherited metabolic disease, 2007-10, Vol.30 (5), p.833-833

2007

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Complementation analysis in patients with the clinical phenotype of a generalised peroxisomal disorder

Journal of medical genetics, 1996-04, Vol.33 (4), p.295-299

1996

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Single base deletion in exon 7 of the glycosylasparaginase gene causes a mild form of aspartylglycosaminuria in a patient of Mauritian origin

Journal of inherited metabolic disease, 1996-01, Vol.19 (1), p.76-83

1996

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Further investigation of the HEXA gene intron 9 donor splice site mutation frequently found in non-Jewish Tay-Sachs disease patients from the British Isles

Journal of medical genetics, 1993-06, Vol.30 (6), p.479-481

1993

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Infantile sialic acid storage disease: report of the first case in South America

Clinical genetics, 1999-05, Vol.55 (5), p.386

1999

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Expression of HLA antigens, β 2 -microglobulin and enzymes by human amniotic epithelial cells

Nature (London), 1982-01, Vol.295 (5847), p.325-327

1982

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Measurement of plasma very long‐chain fatty acids as a preliminary screening procedure for the diagnosis of peroxisomal disorders

Journal of inherited metabolic disease, 1994-05, Vol.17 (3), p.323-326

1994

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Thalamic and basal ganglia hyperdensities--a CT marker for globoid cell leukodystrophy?

Neuropediatrics, 1992-02, Vol.23 (1), p.30-31

1992

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

Farber lipogranulomatosis type 1 – Late presentation and early death in a Croatian boy with a novel homozygous ASAH1 mutation

Niemann-Pick C1 Disease: Correlations between NPC1 Mutations, Levels of NPC1 Protein, and Phenotypes Emphasize the Functional Significance of the Putative Sterol-Sensing Domain and of the Cysteine-Rich Luminal Loop

Niemann-Pick Disease Type C: Spectrum of HE1 Mutations and Genotype/Phenotype Correlations in the NPC2 Group

Complementation studies in Niemann-Pick disease type C indicate the existence of a second group

Argininosuccinate lyase: a new autoantigen in liver disease

An adult with a non‐neuronopathic form of Niemann_Pick C disease

Neurodegenerative course in ceramidase deficiency (Farber disease) correlates with the residual lysosomal ceramide turnover in cultured living patient cells

Co‐cultivation of Niemann‐Pick disease type C fibroblasts belonging to complementation groupsα andβ stimulates LDL‐derived cholesterol esterification

Sandhoff disease in Cyprus : population screening by biochemical and DNA analysis indicates a high frequency of carriers in the Maronite community

Asymptomatic Cholesteryl Ester Storage Disease in an Adult Controlled with Simvastatin

Gaucher's disease in the United Kingdom: screening non-Jewish patients for the two common mutations

4-methylumbelliferyl α-N-acetylglucosaminidase activity for diagnosis of Sanfilippo B disease

X-linked adrenoleukodystrophy with non-diagnostic plasma very long chain fatty acids

Recent advances in the prenatal diagnosis of the mucopolysaccharidoses

Characterization of three alleles causing aspartylglycosaminuria : two from a British family and one from an American patient

A simple method for screening for Farber disease on cultured skin fibroblasts

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

Complementation analysis in patients with the clinical phenotype of a generalised peroxisomal disorder

Single base deletion in exon 7 of the glycosylasparaginase gene causes a mild form of aspartylglycosaminuria in a patient of Mauritian origin

Further investigation of the HEXA gene intron 9 donor splice site mutation frequently found in non-Jewish Tay-Sachs disease patients from the British Isles

Infantile sialic acid storage disease: report of the first case in South America

Expression of HLA antigens, β 2 -microglobulin and enzymes by human amniotic epithelial cells

Measurement of plasma very long‐chain fatty acids as a preliminary screening procedure for the diagnosis of peroxisomal disorders

Thalamic and basal ganglia hyperdensities--a CT marker for globoid cell leukodystrophy?

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