- tyrosinemia II
- tyrosinemia II.= Richner-Hanhart syndrome (см.).(Источник: «Англо-русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд-во ВНИРО, 1995 г.)
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tyrosinemia II
Смотреть что такое "tyrosinemia II" в других словарях:
tyrosinemia II — tyrosinemia II. См. синдром Рихнера Ханхарта. (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) … Молекулярная биология и генетика. Толковый словарь.
tyrosinemia — tyrosinemia. См. тирозиноз. (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) … Молекулярная биология и генетика. Толковый словарь.
Tyrosinemia — Infobox Disease Name = PAGENAME Caption = Tyrosine DiseasesDB = 13478 DiseasesDB mult = DiseasesDB2|13486 DiseasesDB2|29836 ICD10 = ICD10|E|70|2|e|70 ICD9 = ICD9|270.2 ICDO = OMIM = 276700 OMIM mult = OMIM2|276600 OMIM2|276710 MedlinePlus =… … Wikipedia
Tyrosinemia — A genetic metabolic disorder involving the amino acid tyrosine. The enzymatic basis of the disease is deficiency of an enzyme called fumarylacetoacetic hydrolase, the last enzyme in the tyrosine pathway. Tyrosinemia is inherited as an autosomal… … Medical dictionary
tyrosinemia — /tuy roh si nee mee euh, tir oh /, n. Pathol. an inherited disorder of tyrosine metabolism that can lead to liver and kidney disease and mental retardation unless controlled by a special diet. [1960 65; TYROSINE + EMIA] * * * ▪ pathology also… … Universalium
Tyrosinemia type II — Classification and external resources Tyrosine ICD 10 E … Wikipedia
tyrosinemia — noun A metabolic disorder characterized by the presence of excess tyrosine in the blood … Wiktionary
tyrosinemia — noun autosomal recessive defect in tyrosine metabolism resulting in liver and kidney disturbances and mental retardation • Hypernyms: ↑autosomal recessive disease, ↑autosomal recessive defect * * * /tuy roh si nee mee euh, tir oh /, n. Pathol. an … Useful english dictionary
tyrosinemia type I — an autosomal recessive disorder due to mutation in the FAH gene (locus: 15q23 q25), which encodes fumarylacetoacetase, an enzyme important in tyrosine catabolism. It is characterized by accumulation of succinylacetoacetate and succinylacetone,… … Medical dictionary
tyrosinemia type II — a rare autosomal recessive disorder due to mutation in the TAT gene (locus: 16q22.1 q22.3), which encodes tyrosine transaminase, an enzyme important in tyrosine catabolism. Clinical characteristics include crystallization of the accumulated… … Medical dictionary
