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Article

Gene analysis of Mennonite maple syrup urine disease kindred using primer-specified restriction map modification.

Journal of inherited metabolic disease - 1 Jan 1992

Mitsubuchi H, Matsuda I, Nobukuni Y, Heidenreich R, Indo Y, Endo F, Mallee J, Segal S

Abstract excerpt

Maple syrup urine disease (MSUD) is an autosomal recessive inherited disease due to a deficiency of any of the subunits, E1 alpha, E1 beta or E2, of the branched-chain alpha-ketoacid dehydrogenase complex (BCKDH). A large Mennonite kindred of MSUD has been studied in Pennsylvania, USA. In the present investigation, genomes from 70 members, including 12 patients belonging to eight different Mennonite MSUD...

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PMID: 1356170
DOI: 10.1007/BF01799628

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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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Gene analysis of Mennonite maple syrup urine disease kindred using primer-specified restriction map modification.PMID 1356170Read ↗

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Description of the mutations in 15 subjects with variant forms of maple syrup urine disease.Semantic proximity Read ↗

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