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Article

Diagnosis and treatment of maple syrup disease: a study of 36 patients.

Pediatrics - 1 Jun 2002

Morton D Holmes, Strauss Kevin A, Robinson Donna L, Puffenberger Erik G, Kelley Richard I

Abstract excerpt

OBJECTIVE: To evaluate an approach to the diagnosis and treatment of maple syrup disease (MSD). METHODS: Family histories and molecular testing for the Y393N mutation of the E1alpha subunit of the branched-chain alpha-ketoacid dehydrogenase allow us to identify infants who were at high risk for MSD. Amino acid concentrations were measured in blood specimens from these at-risk infants between 12 and 24 hours of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12042535
DOI: 10.1542/peds.109.6.999

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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