Search Results - "Danks, D. M."

Leigh syndrome: clinical features and biochemical and DNA abnormalities by Rahman, S, Blok, R B, Dahl, H H, Danks, D M, Kirby, D M, Chow, C W, Christodoulou, J, Thorburn, D R

“…We investigated the etiology of Leigh syndrome in 67 Australian cases from 56 pedigrees, 35 with a firm diagnosis and 32 with some atypical features…”
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Mutations of the Flavin-Containing Monooxygenase Gene (FMO3) cause Trimethylaminuria, a Defect in Detoxication by Treacy, E. P., Akerman, B. R., Chow, L. M. L., Youil, R., Lin, C. Bibeau, J., Bruce, A. G., Knight, M., Danks, D. M., Cashman, J. R., Forrest, S. M.

“…Individuals with the recessive condition trimethylaminuria exhibit variation in metabolic detoxication of xenobiotics by hepatic flavin-containing…”
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Evaluation of ultrasonographic diagnostic criteria for autosomal dominant polycystic kidney disease 1 by Ravine, D, Gibson, R N, Walker, R G, Sheffield, L J, Kincaid-Smith, P, Danks, D M

“…Although ultrasound is commonly used for screening subjects at risk of polycystic kidney disease 1 (PKD1), there has been no evaluation of ultrasonographic…”
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Copper deficiency in humans by DANKS, D. M

“…Knowledge of copper (Cu) requirements, absorption, and transport and of the biological roles of Cu has accumulated over the past 60 years, but it is not…”
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Prevalence of K329E mutation in medium-chain acyl-CoA dehydrogenase gene determined from Guthrie cards by Matsubara, Y, Narisawa, K, Tada, K, Ikeda, H, Yao, Y Q, Danks, D M, Green, A, McCabe, E R

“…Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is an autosomal recessive disorder that has been associated with sudden infant death syndrome and a…”
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Trimethylaminuria, fish odour syndrome: a new method of detection and response to treatment with metronidazole by Treacy, E., Johnson, D., Pitt, J. J., Danks, D. M.

“…Summary Trimethylaminuria is an autosomal recessive disorder involving deficientN‐oxidation of the dietary‐derived amine trimethylamine (TMA). TMA, a volatile…”
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Phenotype and genotype heterogeneity in autosomal dominant polycystic kidney disease by Ravine, D, Walker, R G, Gibson, R N, Forrest, S M, Richards, R I, Friend, K, Sheffield, L J, Kincaid-Smith, P, Danks, D M

“…It is now clear that mutations of at least two genetic loci can lead to autosomal dominant polycystic kidney disease (ADPKD). We have compared the clinical…”
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Copper and liver disease by Danks, D M

“…There has been some limited progress in the understanding of the basic defect in Wilson disease and the gene concerned has been located to the chromosome…”
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Testing for Huntington's disease by Danks, D M

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Genetic heterogeneity in osteogenesis imperfecta by Sillence, D O, Senn, A, Danks, D M

“…An epidemiological and genetical study of osteogenesis imperfecta (OI) in Victoria, Australia confirmed that there are at least four distinct syndromes at…”
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Hairs from Patients with Maple Syrup Urine Disease Show a Structural Defect in the Fiber Cuticle by Jones, L.N., Peet, D.J., Danks, D.M., Negri, A.P., Rivett, D.E.

“…Models for the surface of cuticle cells in hair fibers consist of a monolayer of fatty acids covalently bound to the underlying protein membrane by thioester…”
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The natural history of untreated phenylketonuria over 20 years by Pitt, D B, Danks, D M

“…Fifty-one adults with untreated phenylketonuria (PKU), have been reviewed after a 20 year interval, at ages ranging from 28.8 to 71.8 years. Five died of…”
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New estimates of Down syndrome risks at chorionic villus sampling, amniocentesis, and livebirth in women of advanced maternal age from a uniquely defined population by Halliday, J L, Watson, L F, Lumley, J, Danks, D M, Sheffield, L J

“…Current measures of livebirth prevalence of Down syndrome are derived from data obtained up to 20 years ago, before the introduction of the prenatal diagnostic…”
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Carrier testing for cystic fibrosis by Danks, D M

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X linked hydrocephalus: a survey of a 20 year period in Victoria, Australia by Halliday, J, Chow, C W, Wallace, D, Danks, D M

“…This study ascertained 164 males with non-communicating hydrocephalus in live or stillborn patients in Victoria. Australia in 1962 to 1982, after excluding…”
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X‐linked pyruvate dehydrogenase E1α subunit deficiency in heterozygous females: Variable manifestation of the same mutation by Dahl, H‐H. M., Hansen, L. L., Brown, R. M., Danks, D. M., Rogers, J. G., Brown, G. K.

“…Summary Three female patients are described with pyruvate dehydrogenase (PDH) deficiency as a result of mutation in the X‐linked gene for the E1α subunit of…”
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Gene therapy and related novel forms of treatment by Danks, D M

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Defining the location of the Huntington disease gene by Danks, D M

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Of mice and men, metals and mutations by Danks, D M

“…Several mutations affecting the transport of copper and zinc in humans and in mice have been discovered over the last 15 years, joining the long known…”
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Identification of the mutations in the T-protein gene causing typical and atypical nonketotic hyperglycinemia by NANAO, K, OKAMURA-IKEDA, K, MOTOKAWA, Y, DANKS, D. M, BAUMGARTNER, E. R, TAKADA, G, HAYASAKA, K

“…We have investigated the molecular lesions of T-protein deficiency causing typical or atypical nonketotic hyperglycinemia (NKH) in two unrelated pedigrees. A…”
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