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Article

Variant maple syrup urine disease (MSUD)--the entire spectrum.

Journal of inherited metabolic disease - 1 Dec 2006

Simon E, Flaschker N, Schadewaldt P, Langenbeck U, Wendel U

Abstract excerpt

BACKGROUND: In the rare inborn autosomal recessive disorder maple syrup urine disease (MSUD) the accumulation of the branched-chain amino acids (BCAAs) and their metabolic products results in acute and chronic brain dysfunction. About 20% of the patients suffer from non-classic variant forms of MSUD of different clinical severity. AIM: Up to now variant cases have mostly been published as individual case reports;...

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Identifiers

PMID: 17063375
DOI: 10.1007/s10545-006-0276-1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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