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Article

Maple syrup urine disease: clinical and biochemical significance of gene analysis.

Journal of inherited metabolic disease - 1 Jan 1991

Nobukuni Y, Mitsubuchi H, Akaboshi I, Indo Y, Endo F, Matsuda I

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Identifiers

PMID: 1664011
DOI: 10.1007/BF01799951

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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Maple syrup urine disease: clinical and biochemical significance of gene analysis.PMID 1664011Read ↗

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

Molecular and structural analyses of maple syrup urine disease and identification of a founder mutation in a Portuguese Gypsy communitySemantic proximity Read ↗

Analysis of gene mutations among South Indian patients with maple syrup urine disease: identification of four novel mutations.Semantic proximity Read ↗

[Maple syrup urine disease caused by a new mutation: C.1128-1130delCinsTT].Semantic proximity Read ↗

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