- citrullinemia
- citrullinemia.См. цитруллинемия.(Источник: «Англо-русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд-во ВНИРО, 1995 г.)
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citrullinemia
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Citrullinemia — Classification and external resources Citrulline ICD 10 E72.2 … Wikipedia
citrullinemia — Urea cycle disorder in which citrulline concentrations in the blood, urine, and cerebrospinal fluid are elevated, because of deficiency of arginosuccinate synthetase (ASS); manifested clinically by lethargy … Medical dictionary
classic citrullinemia — citrullinemia type I … Medical dictionary
citrullinemia type I — a condition caused by mutations in the ASS gene (locus: 9q34.1), which encodes argininosuccinate synthase, marked elevation in plasma and urine levels of citrulline, with hyperammonemia and sometimes secondary oroticaciduria; mild to moderate… … Medical dictionary
citrullinemia type II — a condition caused by mutations in the SLC25A13 gene (locus: 7q21.3), which encodes a mitochondrial transport protein necessary for the conversion of citrulline to argininoscuccinic acid. It is seen almost exclusively in Japan and exists in two… … Medical dictionary
цитруллинемия — citrullinemia цитруллинемия. HЗЧ, обусловленное дефицитом фермента аргининосукцинатсинтетазы, что ведет к нарушению синтеза цитруллина <citrullin>, наблюдается задержка психического развития; наследуется по аутосомно рецессивному типу,… … Молекулярная биология и генетика. Толковый словарь.
Argininosuccinate synthetase 1 — Argininosuccinate synthetase 1, also known as ASS1, is a human gene.cite web | title = Entrez Gene: ASS1 argininosuccinate synthetase 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene Cmd=ShowDetailView TermToSearch=445| accessdate = ]… … Wikipedia
Argininosuccinate synthetase — Protein Name=PAGENAME caption= Symbol=ASS AltSymbols= HGNCid=758 Chromosome=9 Arm=q Band=34.1 LocusSupplementaryData= ECnumber=6.3.4.5 OMIM=603470 EntrezGene=445 RefSeq=NM 000050 UniProt=P00966 PDB=Argininosuccinate synthetase (ASS) is an enzyme… … Wikipedia
Citrin — For other uses, see Flavonoid. solute carrier family 25, member 13 (citrin) Identifiers Symbol SLC25A13 Alt. symbols CTLN2 Entrez … Wikipedia
Newborn screening — See also: Apgar score Newborn screening Intervention MeSH D015997 Newborn screening is the process by which infants are screened shortly after birth for a list of disorders that are treatable, but di … Wikipedia
