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Article

[Gene analysis of maple syrup urine disease (MSUD)].

Rinsho byori. The Japanese journal of clinical pathology - 1 May 1993

Mitsubuchi H, Nobukuni Y, Hayashida Y, Ohta K, Indo Y, Akaboshi I, Endo F, Matsuda I

Abstract excerpt

Maple syrup urine disease (MSUD), an autosomal recessive hereditary metabolic disorder, is due to defective oxidative decarboxylation of the branched-chain alpha-ketoacids (BCKAs) derived from transamination of the three branched-chain amino acids, valine, leucine and isoleucine. The oxidative decarboxylation of three BCKAs is catalysed by the branched-chain alpha-ketoacid dehydrogenase (BCKDH) complex. BCKDH...

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PMID: 8350511

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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[Gene analysis of maple syrup urine disease (MSUD)].PMID 8350511Read ↗

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Maple syrup urine disease. Complete defect of the E1 beta subunit of the branched chain alpha-ketoacid dehydrogenase complex due to a deletion of an 11-bp repeat sequence which encodes a mitochondrial targeting leader peptide in a family with the disease.Semantic proximity Read ↗

Analysis of gene mutations in Chinese patients with maple syrup urine disease.Semantic proximity Read ↗

Identification of mutations, genotype-phenotype correlation and prenatal diagnosis of maple syrup urine disease in Indian patients.Semantic proximity Read ↗

[Maple syrup urine disease caused by two novel BCKDHB gene mutations in a Chinese neonate].Semantic proximity Read ↗

[Maple syrup urine disease: molecular pathology of the branched chain alpha-keto acid dehydrogenase complex].Semantic proximity Read ↗

Three Korean patients with maple syrup urine disease: four novel mutations in the BCKDHA gene.Semantic proximity Read ↗

A T-to-A substitution in the E1 alpha subunit gene of the branched-chain alpha-ketoacid dehydrogenase complex in two cell lines derived from Menonite maple syrup urine disease patients.Semantic proximity Read ↗

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Identification of six novel mutations in Iranian patients with maple syrup urine disease and their in silico analysis.Semantic proximity Read ↗

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