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Article

Gene preference in maple syrup urine disease.

American journal of human genetics - 1 Jan 2001

Nellis M M, Danner D J

Abstract excerpt

Untreated maple syrup urine disease (MSUD) results in mental and physical disabilities and often leads to neonatal death. Newborn-screening programs, coupled with the use of protein-modified diets, have minimized the severity of this phenotype and allowed affected individuals to develop into productive adults. Although inheritance of MSUD adheres to rules for single-gene traits, mutations in the genes for...

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Identifiers

PMID: 11112664
DOI: 10.1086/316950
PMCID: PMC1234918

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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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