Zobrazeno 1 - 10 of 84 pro vyhledávání: '"R. G. F. Gray"'
1
The usefulness of bone marrow aspiration in the diagnosis of Niemann-Pick disease type C in infantile liver disease
Autor: Rachel M. Brown, R. G. F. Gray, M. A. Preece, Femida Hill, Ulrich Baumann, AF Rodrigues, Patrick J. McKiernan
Publikováno v: Archives of Disease in Childhood. 91:841-844
Background: Niemann–Pick disease type C (NPC) is a fatal, autosomal recessive lysosomal storage disease which may present in infancy with cholestatic jaundice and/or hepatosplenomegaly. In cholestatic patients with splenomegaly, a bone marrow aspir
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3e89e0c97e4d0240555f573bc9cf837
https://doi.org/10.1136/adc.2005.088013
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2
Molecular characterization of methylmalonate semialdehyde dehydrogenase deficiency
Autor: K. M. Gibson, Rodney J. Pollitt, G. Rylance, K. L. Chambliss, R. G. F. Gray
Publikováno v: Journal of Inherited Metabolic Disease. 23:497-504
Three patients have been reported with (putative) methylmalonic semialdehyde dehydrogenase (MMSDH) deficiency. The urine metabolic pattern was strikingly different in all, including beta-alanine, 3-hydroxypropionic acid, both isomers of 3-amino- and
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::578de16d7bb09c2964800b0dad0e85a6
https://doi.org/10.1023/a:1005616315087
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3
Tyrosinaemia type 1 and glutathione synthetase deficiency: two disorders with reduced hepatic thiol group concentrations and a liver 4‐fumarylacetoacetate hydrolase deficiency
Autor: Adrian J. Lloyd, R. G. F. Gray, A. Green
Publikováno v: Journal of Inherited Metabolic Disease. 18:48-55
Thiol groups are important components of proteins and their oxidation can lead to a substantial loss of protein function. Patients with two apparently unrelated inborn errors of metabolism, tyrosinaemia type 1 and glutathione synthetase deficiency, h
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d56edf6d6deef5b56a0d0c19c49363b0
https://doi.org/10.1007/bf00711372
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4
Practical difficulties in the diagnosis of transient non-ketotic hyperglycinaemia
Autor: E E Matthews, Jeremy R. Parr, J D S Kay, James R. Bonham, R G F Gray, T F Lang
Publikováno v: Developmental medicine and child neurology. 50(2)
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 NKH. Metabolic studies performed on day 2 of life showed raised cerebrospinal fluid (CSF)
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::929d6cfe5a2fdad1bbdfe5a2a270d2a1
https://pubmed.ncbi.nlm.nih.gov/18201306
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5
Prenatal exclusion of the hhh syndrome
Autor: C. McKeown, R. G. F. Gray, A. Green, S. Hall
Publikováno v: Prenatal Diagnosis. 15:474-476
Prenatal diagnosis of the hyperornithinaemia, hyperammonaemia, and homocitrullinuria syndrome is described by the analysis of ornithine incorporation in second-trimester cultured amniotic fluid cells. An unaffected fetus was predicted and confirmed i
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9be302c03ba35d60b64b1936de8b8d6c
https://doi.org/10.1002/pd.1970150511
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7
The frequency of mtDNA 8994 polymorphism and detection of the NARP 8993 mutation
Autor: R G F Gray, A Marshall, S K Heath, P A Davies
The highly polymorphic nature of the mitochondrial genome (mtDNA) has proved valuable to the population geneticist, but can cause serious problems in the identification of disease causing mutations. A T→C or T→G transition at nt 8993 in human mtD
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0182d2186903c6c0d1fb605da3dda95e
https://europepmc.org/articles/PMC1735065/
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8
Inborn errors of metabolism as a cause of neurological disease in adults: an approach to investigation
Autor: J Winer, A Green, Stuart H. Green, M A Preece, R. G. F. Gray, William P Whitehouse
In 1927 Archibald Garrod presented the Huxley Lecture at Charing Cross Hospital1 Out of this lecture emerged the concept of an “inborn error of metabolism” whereby an inherited defect may lead to the accumulation in cells or body fluids of a meta
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff98499216b8de6832ed958e6a7ee9c7
https://europepmc.org/articles/PMC1737019/
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10
Identification and characterization of three novel missense mutations in'mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis
Autor: Marinus Duran, Sander M. Houten, J. B. C. de Klerk, Janet Koster, K. M. Gibson, G. J. Romeijn, Hans R. Waterham, Gerrit Smit, R. G. F. Gray, P. Darbyshire, Ron J. A. Wanders
Publikováno v: Human Molecular Genetics, 8(8), 1523-1528. Oxford University Press
Human molecular genetics, 8(8), 1523-1528. Oxford University Press
Mevalonic aciduria is a rare autosomal recessive metabolic disorder, characterized by psychomotor retardation, failure to thrive, hepatosplenomegaly, anemia and recurrent febrile crises. The disorder is caused by a deficient activity of mevalonate ki
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64ce3731ed94599ca18961b17f1b5359
https://pure.eur.nl/en/publications/a500446b-b425-424f-aa09-076b5ccd25ea
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