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methylmalonic aciduria

См. также в других словарях:

  • methylmalonic aciduria — Excretion of excessive amounts of methylmalonic acid in urine owing to deficient activity of methylmalonyl CoA mutase or deficient cobalamin reductase. Two types occur: 1) an inborn error of metabolism resulting in severe …   Medical dictionary

  • methylmalonic aciduria — methylmalonic acidaemia; = aminoacidopathy a defect of amino acid metabolism causing an excess of methylmalonic acid in the urine and blood. There are two types: one is an inborn error of metabolism due to a deficiency of the enzyme methylmalonyl …   The new mediacal dictionary

  • methylmalonic acidaemia — methylmalonic aciduria …   The new mediacal dictionary

  • Methylmalonic acidemia — Classification and external resources Methylmalonic acid ICD 10 E …   Wikipedia

  • 3-Methylglutaconic aciduria — Classification and external resources 3 methylglutaconic acid DiseasesDB …   Wikipedia

  • 2-Hydroxyglutaric aciduria — Classification and external resources Alpha Hydroxyglutaric acid OMIM 600721 …   Wikipedia

  • Glutaric aciduria type 1 — DiseaseDisorder infobox Name = Glutaric acidemia type 1 ICD10 = ICD10|E|72|3|e|70 ICD9 = ICDO = Caption = Glutaric acid OMIM = 231670 MedlinePlus = eMedicineSubj = eMedicineTopic = DiseasesDB = 29830 Glutaric acidemia type 1 (or Glutaric Aciduria …   Wikipedia

  • β-hydroxypropionic aciduria — Elevated levels of β hydroxypropionic acid in the urine; seen in defects in methylmalonic acid and propionate metabolism, as well as in ketotic hyperglycinemia syndrome …   Medical dictionary

  • MMAB — Methylmalonic aciduria (cobalamin deficiency) cblB type, also known as MMAB, is a human gene.cite web | title = Entrez Gene: MMAB methylmalonic aciduria (cobalamin deficiency) cblB type| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene… …   Wikipedia

  • Methylmalonyl-CoA mutase — Rendering based on PDB 2XIJ …   Wikipedia

  • Organic acidemia — Organic acidemia, also called organic aciduria, is a term used to classify a group of metabolic disorders which disrupt normal amino acid metabolism, particularly branched chain amino acids, causing a buildup of acids which are usually not… …   Wikipedia

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