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isovaleric acidemia · Vinony

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EntityQ3278042· pop 11· linked from 89 articles

isovaleric acidemia

organic acidemia disrupting or preventing normal metabolism of the branched-chain amino acid leucine

Research

334 papers

Classic Isovaleric Acidemia.1993
Isovaleric Acidemia in Jordan.Cureus · 2024
[Acidemia, isovaleric].Ryoikibetsu shokogun shirizu · 2001
Isovaleric Acidemia: A Case Report.Cureus · 2023
[Isovaleric acidemia].Ryoikibetsu shokogun shirizu · 1998

Connections

branched-chain amino acid

Categories

Amino acid metabolism disorders Autosomal recessive disorders Rare diseases

Sources

wikipedia.externallinksexternallink

United States

Country

digital object identifier

International Standard Serial Number

International Statistical Classification of Diseases and Related Health Problems

mass spectrometry

DL-glutamic acid

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Discovered by embedding cosine similarity (sentence-transformers MiniLM, 384-dim).

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What links here89 pages

newborn screening

tyrosinemia type I

Entity

Fanconi syndrome

oculocerebrorenal syndrome

glutaric aciduria type 1

hyperhomocysteinemia

Hermansky-Pudlak syndrome

trimethylaminuria

inherited metabolic disorder

methylmalonic acidemia

tyrosinemia type II

beta-hydroxy beta-methylbutyric acid

organic acidemia

isovaleric acid

argininosuccinic aciduria

ornithine carbamoyltransferase deficiency

carbamoyl phosphate synthetase I deficiency disease