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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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Compound heterozygosity for a Wolman mutation is frequent among patients with cholesteryl ester storage disease

Journal of lipid research, 2000-01, Vol.41 (1), p.23-31

2000

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Cloning of the X-linked glycerol kinase deficiency gene and its identification by sequence comparison to the Bacillus subtilis homologue

Human molecular genetics, 1993-02, Vol.2 (2), p.97-106

1993

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Retrovirally mediated correction of bone marrow–derived mesenchymal stem cells from patients with mucopolysaccharidosis type I

Blood, 2002-03, Vol.99 (5), p.1857-1859

2002

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Ornithine aminotransferase deficiency: Diagnostic difficulties in neonatal presentation

Journal of inherited metabolic disease, 2005-01, Vol.28 (5), p.673-679

2005

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Novel OCTN2 mutations: No genotype-phenotype correlations: Early carnitine therapy prevents cardiomyopathy

American journal of medical genetics, 2002-08, Vol.111 (3), p.271-284

2002

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Five cases of isolated glycerol kinase deficiency, including two families: failure to find genotype:phenotype correlation

Journal of medical genetics, 2000-06, Vol.37 (6), p.434-441

2000

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Sphingomyelinase defect in niemann-pick disease, type C, fibroblasts

FEBS letters, 1977-08, Vol.80 (1), p.71-74

Besley, Guy T.N.

1977

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Spectrophotometric and fluorimetric assays of galactocerebrosidase activity, their use in the diagnosis of Krabbe's disease

Clinica chimica acta, 1981-02, Vol.110 (1), p.19-26

1981

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Effect of Triton X-100 on the isoelectric focusing profile of fibroblast sphingomyelinase

FEBS letters, 1976-12, Vol.72 (1), p.101-104

Besley, Guy T.N.

1976

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The nature of lysosomal enzyme glycosylation in all: Relevance to abnormal β-hexosaminidase expression

Leukemia research, 1988, Vol.12 (3), p.267-275

1988

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Evidence from lectin-binding studies for abnormal glycosylation ofβ-hexosaminidase in the leukaemic cell-line CCRF/CEM

Glycoconjugate journal, 1985-09, Vol.2 (3-4), p.267-277

1985

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Studies on pyrophosphate diesterase activity in cultured human fibroblasts: A deficiency in Niemann-Pick disease

Clinica chimica acta, 1981-11, Vol.117 (1), p.75-84

1981

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Studies on sphingomyelinase and β-glucosidase activities in Niemann-Pick disease variants: Phosphodiesterase activities measured with natural and artificial substrates

Biochimica et biophysica acta, 1983-06, Vol.752 (1), p.54-64

1983

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Amylo-1,6-glucosidase activity in cultured cells: A deficiency in type III glycogenosis with prenatal studies

Prenatal diagnosis, 1983-01, Vol.3 (1), p.13-19

1983

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Studies on sphingomyelinase and β-glucosidase activities in Niemann-Pick disease variants

Biochimica et biophysica acta. Lipids and lipid metabolism, 1983-06, Vol.752 (1), p.54-64

1983

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Recognition of abnormal lysosomal enzyme patterns in childhood leukaemia by isoelectric focusing, with special reference to some properties of abnormally expressed components

Leukemia research, 1981, Vol.5 (1), p.29-40

1981

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Isoelectric Focusing of Galactosylceramide β-Galactosidase in Cultured Skin Fibroblasts of Patients with Krabbe's Globoid-Cell Leucodystrophy

Biochemical Society transactions, 1975-01, Vol.3 (2), p.241-244

BESLEY, GUY T. N.

1975

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Studies on hexosaminidase C in cultured skin fibroblasts from patients with Sandhoff's disease

Biochemical Society transactions, 1975-01, Vol.3 (2), p.247-250

1975

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

Compound heterozygosity for a Wolman mutation is frequent among patients with cholesteryl ester storage disease

Cloning of the X-linked glycerol kinase deficiency gene and its identification by sequence comparison to the Bacillus subtilis homologue

Retrovirally mediated correction of bone marrow–derived mesenchymal stem cells from patients with mucopolysaccharidosis type I

Ornithine aminotransferase deficiency: Diagnostic difficulties in neonatal presentation

Novel OCTN2 mutations: No genotype-phenotype correlations: Early carnitine therapy prevents cardiomyopathy

Five cases of isolated glycerol kinase deficiency, including two families: failure to find genotype:phenotype correlation

Sphingomyelinase defect in niemann-pick disease, type C, fibroblasts

Spectrophotometric and fluorimetric assays of galactocerebrosidase activity, their use in the diagnosis of Krabbe's disease

Effect of Triton X-100 on the isoelectric focusing profile of fibroblast sphingomyelinase

The nature of lysosomal enzyme glycosylation in all: Relevance to abnormal β-hexosaminidase expression

Evidence from lectin-binding studies for abnormal glycosylation ofβ-hexosaminidase in the leukaemic cell-line CCRF/CEM

Studies on pyrophosphate diesterase activity in cultured human fibroblasts: A deficiency in Niemann-Pick disease

Studies on sphingomyelinase and β-glucosidase activities in Niemann-Pick disease variants: Phosphodiesterase activities measured with natural and artificial substrates

Amylo-1,6-glucosidase activity in cultured cells: A deficiency in type III glycogenosis with prenatal studies

Studies on sphingomyelinase and β-glucosidase activities in Niemann-Pick disease variants

Recognition of abnormal lysosomal enzyme patterns in childhood leukaemia by isoelectric focusing, with special reference to some properties of abnormally expressed components

Isoelectric Focusing of Galactosylceramide β-Galactosidase in Cultured Skin Fibroblasts of Patients with Krabbe's Globoid-Cell Leucodystrophy

Studies on hexosaminidase C in cultured skin fibroblasts from patients with Sandhoff's disease

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