Zobrazeno 1 - 10 of 62 pro vyhledávání: '"T, Hutchin"'
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Kniha
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2
Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) as a cause of liver disease in infants in the UK
Autor: Mikio Iijima, Ulrich Baumann, Anupam Chakrapani, T Hutchin, Verity M Mcclelland, Patrick J. McKiernan, Fumihiko Okumura, Takeyori Saheki, Christian J. Hendriksz, Keiko Kobayashi, M. A. Preece, Yuan-Zong Song
Publikováno v: Journal of Inherited Metabolic Disease. 32:151-155
Citrin deficiency is a disorder with two phenotypes: neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD), and adult-onset type II citrullinaemia (CTLN2). NICCD presents in the first few weeks of life with prolonged cholestasis and m
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38396d4b02dc6eacf3f3a134570085b8
https://doi.org/10.1007/s10545-009-1116-x
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3
Variable Phenotype Including Leigh Syndrome with a 9185T>C Mutation in the MTATP6 Gene
Autor: Karen Pysden, John Bamford, L.J. Highet, T. Hutchin, John H. Livingston, Yanick J. Crow, Anne-Marie Childs
Publikováno v: Neuropediatrics. 38:313-316
We describe 15 members of a Caucasian family with an apparently homoplasmic T-->C mutation at nucleotide position 9185 (9185T>C) in the mtDNA encoded MTATP6 (ATPase 6) gene. The clinical phenotype is extremely variable and includes late-onset Leigh s
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83118ba06c40900cf0f5faef5e6004cb
https://doi.org/10.1055/s-2008-1065355
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4
Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK - implications for genetic testing
Autor: T, Hutchin, N N, Coy, H, Conlon, E, Telford, K, Bromelow, D, Blaydon, G, Taylor, E, Coghill, S, Brown, R, Trembath, X Z, Liu, M, Bitner-Glindzicz, R, Mueller
Publikováno v: Clinical genetics. 68(6)
Approximately one in 2000 children is born with a genetic hearing impairment, mostly inherited as a non-syndromic, autosomal recessive trait, for which more than 30 different genes have been identified. Previous studies have shown that one of these g
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::25a772070e3cd810432bba5a76d95b3c
https://pubmed.ncbi.nlm.nih.gov/16283880
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5
Serum hyaluronic acid in Down's syndrome
Autor: L Martin, V Prasher, T Hutchin, Alan J. Sinclair
Publikováno v: Mechanisms of ageing and development. 106(1-2)
In agreement with previous studies we show an age-related increase in serum levels of hyaluronic acid in healthy individuals. Levels in Down's syndrome persons were slightly higher, especially in those with hypothyroidism. This provides further evide
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f111d7959c7d0174077324f70e44409a
https://pubmed.ncbi.nlm.nih.gov/9883980
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6
Topical gentamicin-induced hearing loss: a mitochondrial ribosomal RNA study of genetic susceptibility
Autor: J M, Chen, P A, Williamson, T, Hutchin, J M, Nedzelski, G A, Cortopassi
Publikováno v: The American journal of otology. 17(6)
Mitochondrial ribosomal RNA mutation has been shown to predispose affected individuals to aminoglycoside-induced hearing loss (AIHL). An A-to-G nucleotide substitution at the 1555 position within the 12S ribosomal RNA gene has been identified with a
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::80994902dcf6b6975592382f30b7d1e0
https://pubmed.ncbi.nlm.nih.gov/8915412
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10
Akademický článek
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Plný text Recenzováno Digitální knihovna AV ČR
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