Výsledky vyhledávání - "N G, Kennaway"

A deletion in the ornithine aminotransferase gene in gyrate atrophy

Autor: N. G. Kennaway, R. G. Weleber, George Inana, Yukihiko Mashima, Y Akaki, Akira Murakami, Yoshihiro Hotta

Publikováno v: Journal of Biological Chemistry. 267:12950-12954

Gyrate atrophy (GA) is an autosomal recessive chorioretinal degenerative disease of the eye caused by an inborn defect of the nuclear encoded mitochondrial enzyme ornithine aminotransferase (OAT). We have described previously a GA patient with a 5.0-

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f9996ac078987f888f4f3f32aeb07bee
https://doi.org/10.1016/s0021-9258(18)42366-6

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Diabetes and mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS): radiolabeled polymerase chain reaction is necessary for accurate detection of low percentages of mutation

Autor: M L, Smith, X Y, Hua, D L, Marsden, D, Liu, N G, Kennaway, K Y, Ngo, R H, Haas

Publikováno v: The Journal of clinical endocrinology and metabolism. 82(9)

A 6-yr-old boy presented with muscle weakness, lactic acidemia, and insulin-dependent diabetes mellitus (IDDM). Using PCR and restriction enzyme analysis, he was found to have the classical A3248G mitochondrial DNA (mtDNA) mutation frequently associa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::0fc95225e15bbde7e640d6a261098e03
https://pubmed.ncbi.nlm.nih.gov/9284704

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Multiple respiratory chain abnormalities associated with hypertrophic cardiomyopathy and 3-methylglutaconic aciduria

Autor: N. G. Kennaway, H. Ibel, Marinus Duran, Kenneth M. Gibson, T. Deufel, W. Endres, H. B. Hadorn, I. Paetzke

Publikováno v: European journal of pediatrics. 152(8)

In a 4.5-month-old boy presenting with marked muscular hypotonia in the neonatal period, hepatomegaly, cardiac hypertrophy, recurrent hypoglycemia, metabolic acidosis, and secondary carnitine deficiency, there was a considerable urinary excretion of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::034200eec08432f26bc39e4dee924934
https://pubmed.ncbi.nlm.nih.gov/7691603

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Nonsense-codon mutations of the ornithine aminotransferase gene with decreased levels of mutant mRNA in gyrate atrophy

Autor: Y, Mashima, A, Murakami, R G, Weleber, N G, Kennaway, L, Clarke, T, Shiono, G, Inana

Publikováno v: American journal of human genetics. 51(1)

A generalized deficiency of the mitochondrial matrix enzyme ornithine aminotransferase (OAT) is the inborn error in gyrate atrophy (GA), an autosomal recessive degenerative disease of the retina and choroid of the eye. Mutations in the OAT gene show

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::5fc9df582409c653c0d3f3017889df0a
https://pubmed.ncbi.nlm.nih.gov/1609808

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Molecular basis of ornithine aminotransferase defect in gyrate atrophy

Autor: G, Inana, Y, Hotta, C, Zintz, C, Chambers, N G, Kennaway, R G, Weleber, A, Nakajima, T, Shiono

Publikováno v: Progress in clinical and biological research. 362

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::415ee696e7b01ced819e994eb12c355f
https://pubmed.ncbi.nlm.nih.gov/1672235

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Gyrate atrophy of the choroid and retina: characterization of mutant ornithine aminotransferase and mechanism of response to vitamin B6

Autor: N G, Kennaway, L, Stankova, M K, Wirtz, R G, Weleber

Publikováno v: American journal of human genetics. 44(3)

The purpose of this study was to characterize the mutant enzyme in nine patients with gyrate atrophy of the choroid and retina associated with ornithine aminotransferase (OAT) deficiency, to elucidate the mechanism of response to pyridoxine in four p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::f25c8edebd2910ea8e9851ea154ca00e
https://pubmed.ncbi.nlm.nih.gov/2916580

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Metabolic myopathies: evaluation by graded exercise testing

Autor: D L, Elliot, N R, Buist, L, Goldberg, N G, Kennaway, B R, Powell, K S, Kuehl

Publikováno v: Medicine. 68(3)

Exertional muscle pain and fatigue are common complaints; some patients with these symptoms have a metabolic myopathy. We have performed graded exercise testing with analysis of expired ventilation on 13 individuals with various kinds of metabolic my

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::978835cba98b8f92f9b640131a0d92eb
https://pubmed.ncbi.nlm.nih.gov/2716515

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Gyrate atrophy of the choroid and retina with hyperornithinemia: biochemical and histologic studies and response to vitamin B6

Autor: N G, Kennaway, R G, Weleber, N R, Buist

Publikováno v: American journal of human genetics. 32(4)

Four patients with hyperomithinemia and gyrate atrophy of the choroid and retina age described. In vivo response to vitamin B6 is documented in three of the four patients by significant reduction of fasting serum ornithine and increase of lysine afte

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::96d9ca806fe17948e9176789e31f4871
https://pubmed.ncbi.nlm.nih.gov/7395865

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