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Article

Molecular diagnosis of maple syrup urine disease: screening and identification of gene mutations in the branched-chain alpha-ketoacid dehydrogenase multienzyme complex.

Journal of inherited metabolic disease - 1 Jan 1992

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

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PMID: 1434524
DOI: 10.1007/BF01800029

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

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Molecular diagnosis of maple syrup urine disease: screening and identification of gene mutations in the branched-chain alpha-ketoacid dehydrogenase multienzyme complex.PMID 1434524Read ↗

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

Maple syrup urine disease: clinical and biochemical significance of gene analysis.Semantic proximity Read ↗

Identification of mutations, genotype-phenotype correlation and prenatal diagnosis of maple syrup urine disease in Indian patients.Semantic proximity Read ↗

Clinical characteristics and mutation analysis of five Chinese patients with maple syrup urine disease.Semantic proximity Read ↗

Maple syrup urine disease diagnosis in Brazilian patients by massive parallel sequencing.Semantic proximity Read ↗

Heterogeneity of mutations in maple syrup urine disease (MSUD): screening and identification of affected E1 alpha and E1 beta subunits of the branched-chain alpha-keto-acid dehydrogenase multienzyme complex.Semantic proximity Read ↗

Three Korean patients with maple syrup urine disease: four novel mutations in the BCKDHA gene.Semantic proximity Read ↗

Genotypic and phenotypic spectrum of maple syrup urine disease in Zhejiang of China.Semantic proximity Read ↗

Identification of six novel mutations in Iranian patients with maple syrup urine disease and their in silico analysis.Semantic proximity Read ↗

Human mutations affecting branched chain alpha-ketoacid dehydrogenase.Semantic proximity Read ↗

Identification of Four Novel Mutations in Chilean Patients with Various Forms of Maple Syrup Urine Disease Semantic proximity Read ↗

Genotype-phenotype correlation of 33 patients with maple syrup urine disease.Semantic proximity Read ↗

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