Zobrazeno 1 - 10 of 145 pro vyhledávání: '"C R Scriver"'
1
A Commentary on Multiple Screening for Aminoacidopathies in the Newborn Infant
Autor: C R, Scriver, C, Clow, E, Davies, A, Ramos, L, Stern
Publikováno v: Canadian Medical Association journal. 92(26)
Multiple screening for aminoacidopathies has been attempted with a simple micromethod (Lancet, 2: 230, 1964) requiring only 10 mul. of plasma collected in a capillary tube and processed by a chromatographic technique. In a survey of 1250 infants, two
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::e9992e5cc548361ef8e6dade632d0e7c
https://pubmed.ncbi.nlm.nih.gov/20328261
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2
The birth prevalence of PKU in populations of European, South Asian and sub-Saharan African ancestry living in South East England
Autor: M. Cleary, H. Jones, C. R. Scriver, Mario Cortina-Borja, Pia Hardelid, A. Munro, M. P. Champion, Carol Dezateux, Y. Foo
Publikováno v: Annals of human genetics. 72(Pt 1)
Summary Phenylketonuria (PKU) is an autosomal recessive inborn error of metabolism (OMIM 261600). Treatment with a low-phenylalanine diet following early ascertainment by newborn screening prevents impaired cognitive development, themajor disease phe
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::accc0a16d84b9f53cca3993e2dbd886c
https://pubmed.ncbi.nlm.nih.gov/18184144
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4
Guidelines and recommendations for content, structure, and deployment of mutation databases: II. Journey in progress
Autor: C R, Scriver, P M, Nowacki, H, Lehväslaiho
Publikováno v: Human mutation. 15(1)
The HUGO Mutation Database Initiative has produced guidelines and recommendations addressing uniform nomenclature of (human) genes and alleles, and computing standards to permit a moderate level of built-in redundancy, searchable interfaces, and comp
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::c82c58bb6e5ba936077f15a008303ce3
https://pubmed.ncbi.nlm.nih.gov/10612816
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5
PAHdb: a locus-specific knowledgebase
Autor: C R, Scriver, P J, Waters, C, Sarkissian, S, Ryan, L, Prevost, D, Côté, J, Novak, S, Teebi, P M, Nowacki
Publikováno v: Human mutation. 15(1)
PAHdb is an online relational locus-specific "mutation database" (http://www.mcgill.ca/pahdb) for the human phenylalanine hydroxylase gene (symbol PAH) and its associated phenotypes (protein, metabolic, clinical). When combined with associated inform
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::5518a2ea2941bb26bb442fd1e8698dab
https://pubmed.ncbi.nlm.nih.gov/10612829
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7
In vitro expression analysis of mutations in phenylalanine hydroxylase: linking genotype to phenotype and structure to function
Autor: P J, Waters, M A, Parniak, P, Nowacki, C R, Scriver
Publikováno v: Human mutation. 11(1)
Mutations in the human phenylalanine hydroxylase gene (PAH) altering the expressed cDNA nucleotide sequence (GenBank U49897) can impair activity of the corresponding enzyme product (hepatic phenylalanine hydroxylase, PAH) and cause hyperphenylalanine
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::3d2ad8bb951956c7cb19fb704f417edc
https://pubmed.ncbi.nlm.nih.gov/9450897
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8
Analysis of phenylalanine hydroxylase genotypes and hyperphenylalaninemia phenotypes using L-[1-13C]phenylalanine oxidation rates in vivo: a pilot study
Autor: E P, Treacy, J J, Delente, G, Elkas, K, Carter, M, Lambert, P J, Waters, C R, Scriver
Publikováno v: Pediatric research. 42(4)
Hyperphenylalaninemia (HPA) resulting from deficient activity of phenylalanine hydroxylase (PAH) is caused by mutations in the human PAH gene (McKusick 261600). Herein, we report a noninvasive method to: 1) estimate whole-body phenylalanine oxidation
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::c649c63979089081cfa1ddb35b95b6bb
https://pubmed.ncbi.nlm.nih.gov/9380432
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9
Prenatal diagnosis for inborn errors of metabolism and haemoglobinopathies: the Montreal Children's Hospital experience
Autor: K, Sasi, D, Sanderson, P, Eydoux, L, Cartier, C R, Scriver, E, Treacy
Publikováno v: Prenatal diagnosis. 17(7)
We reviewed all referrals for prenatal diagnosis for inborn errors of metabolism and haemoglobinopathies performed at the Montreal Children's Hospital Prenatal Diagnosis Centre/McGill University during the period 1990-1995; 92 procedures were perform
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::63f161f373552d1800b2da61c355f9ee
https://pubmed.ncbi.nlm.nih.gov/9249871
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