Search Results - "Gray, R. G. F."

Identification and Characterization of Three Novel Missense Mutations in Mevalonate Kinase cDNA Causing Mevalonic Aciduria, a Disorder of Isoprene Biosynthesis by Houten, S. M., Romeijn, G. J., Koster, J., Gray, R. G. F., Darbyshire, P., Smit, G. P. A., de Klerk, J. B. C., Duran, M., Gibson, K. M., Wanders, R. J. A., Waterham, H. R.

“…Mevalonic aciduria is a rare autosomal recessive metabolic disorder, characterized by psychomotor retardation, failure to thrive, hepatosplenomegaly, anemia…”
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Inborn errors of metabolism as a cause of neurological disease in adults: an approach to investigation by Gray, R G F, Preece, M A, Green, S H, Whitehouse, W, Winer, J, Green, A

“…Disease Clinical symptoms Tests Lysosomal storage diseases - Acid maltase deficiency Muscle weakness, respiratory difficulty Lymphocyte [alpha]-glucosidase -…”
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Molecular characterization of methylmalonate semialdehyde dehydrogenase deficiency by Chambliss, K. L., Gray, R. G. F., Rylance, G., Pollitt, R. J., Gibson, K. M.

“…Three patients have been reported with (putative) methylmalonic semialdehyde dehydrogenase (MMSDH) deficiency. The urine metabolic pattern was strikingly…”
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Mild ichthyosis in a 4‐year‐old boy with multiple sulphatase deficiency by Loffeld, A., Gray, R.G.F., Green, S.H., Roper, H.P., Moss, C.

“…Summary We report a 4‐year‐old boy with multiple sulphatase deficiency (MSD). His early health was good. By the end of his first year there were concerns about…”
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Prenatal diagnosis of succinate semialdehyde dehydrogenase deficiency in non‐identical twins by Aligianis, I. A., Farndon, P. A., Gray, R. G. F., Heath, S. K., Kilby, M., Gibson, K. M., Akaboshi, S.

“…Prenatal diagnosis was performed by both DNA and enzymatic analysis on non‐identical twins conceived by in vitro fertilization and at risk of succinate…”
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Practical difficulties in the diagnosis of transient non‐ketotic hyperglycinaemia by Lang, T F, Parr, J R, Matthews, E E, Gray, R G F, Bonham, J R, Kay, J D S

“…Making a diagnosis of transient non‐ketotic hyperglycinaemia (tNKH) can be difficult. We report an infant who presented in the neonatal period with symptoms of…”
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The Leber hereditary optic neuropathy 14484 mutation and X‐linked adrenoleukodystrophy: A possible modifier of phenotypic expression? by Gray, R. G. F., Green, S. H., Davies, P., Alger, S., Green, A.

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Mutation screening for tyrosinaemia type I by Heath, S. K., Gray, R. G. F., McKiernan, P., Au, K. M., Walker, E., Green, A.

“…This study reports the development of a mutation screening strategy for tyrosinaemia type I, and the identification of six novel mutations in the FAA gene…”
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The frequency of mtDNA 8994 polymorphism and detection of the NARP 8993 mutation by Gray, R G F, Davies, P A, Marshall, A, Heath, S K

“…Under the gel electrophoresis conditions used (2% agarose with ethidium bromide staining), the 190 bp and 187 bp fragments run as a single band and the 31 bp…”
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Tyrosinaemia type 1 and glutathione synthetase deficiency: two disorders with reduced hepatic thiol group concentrations and a liver 4‐fumarylacetoacetate hydrolase deficiency by Lloyd, A. J., Gray, R. G. F., Green, A.

“…Summary Thiol groups are important components of proteins and their oxidation can lead to a substantial loss of protein function. Patients with two apparently…”
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Prenatal exclusion of the HHH syndrome by Gray, R G, Green, A, Hall, S, McKeown, C

“…Prenatal diagnosis of the hyperornithinaemia, hyperammonaemia, and homocitrullinuria syndrome is described by the analysis of ornithine incorporation in…”
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The cryopreservation of skin biopsies--a technique for reducing workload in a cell culture laboratory by Gray, R G, Ryan, D, Green, A

“…A method is described for the cryopreservation of skin biopsies at -70 degrees C for subsequent possible reculture. Biopsies stored up to 1 year could be…”
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Prenatal diagnosis for Canavan disease: the use of DNA markers by Matalon, R., Kaul, R., Gao, G. P., Michals, K., Gray, R. G. F., Bennett‐Briton, S., Norman, A., Smith, M., Jakobs, C.

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Rhizomelic chondrodysplasia punctata — A new clinical variant by Gray, R. G. F., Green, A., Chapman, S., McKeown, C., Schutgens, R. B. H., Wanders, R. J. A.

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Atypical radiological features of beta-glucuronidase deficiency (mucopolysaccharidosis VII) occurring in an elderly patient from an inbred kindred by Chapman, S, Gray, R G, Constable, T J, Bundey, S

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Riboflavin‐responsive ethylmalonic—adipic aciduria by Green, A., Marshall, T. G., Bennett, M. J., Gray, R. G. F., Pollitt, R. J.

“…A patient presenting with a condition resembling Reye's syndrome was found to have a urinary organic acid excretion pattern similar to those previously…”
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Antenatal diagnosis of rhizomelic chondrodysplasia punctata in the second trimester by Gray, R. G. F., Green, A., Schutgens, R. B. H., Wanders, R. J. A., Farndon, P. A., Kennedy, C. R.

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A case of the B1 variant of GM2‐gangliosidosis by Gray, R. G. F., Green, A., Rabb, L., Broadhead, D. M., Besley, G. T. N.

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The diagnosis and biochemical investigation of a patient with a short chain fatty acid oxidation defect by Bennett, M. J., Gray, R. G. F., Isherwood, D. M., Murphy, N., Pollitt, R. J.

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Biochemical investigations on a patient with a defect in cytosolic acetoacetyl‐CoA thiolase, associated with mental retardation by Bennett, M. J., Hosking, G. P., Smith, M. F., Gray, R. G. F., Middleton, B.

“…A severely mentally retarded boy with two normal siblings was persistently found to excrete elevated amounts of 3‐hydroxybutyrate and acetoacetate. Enzyme…”
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