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Anthony H. Fensom

Guy's Hospital

46

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Frequency oftheTay-Sachs disease splice andinsertion mutations intheUK Ashkenazi Jewish population

2017
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New GLB1 mutation in siblings with Morquio type B disease presenting with mental regression.

2009 Molecular Genetics and Metabolism
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4-methylumbelliferyl α-N-acetylglucosaminidase activity for diagnosis of Sanfilippo B disease

2008 Clinical Genetics
- Jon K Marsh
- Anthony H. Fensom
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Salla disease--rare or underdiagnosed?

2008 Developmental Medicine & Child Neurology
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46. The natural history of Niemann–Pick disease type C

2008 Molecular Genetics and Metabolism
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Infantile GM1 gangliosidosis: fatal disease due to inherited progressive neuronal damage

2007
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The natural history of Niemann–Pick disease type C in the UK

2007 Journal of Inherited Metabolic Disease
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Niemann-Pick Disease Type C: Spectrum of HE1 Mutations and Genotype/Phenotype Correlations in the NPC2 Group

2001 American Journal of Human Genetics
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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.

2001 American Journal of Human Genetics
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Biallelic discrimination assays for the three common Ashkenazi Jewish mutations and a common non-Jewish mutation, in Tay-Sachs disease, using fluorogenic TaqMan probes.

2000 Genetic Testing
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