Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Mutational spectrum of maple syrup urine disease in Spain.

Human mutation - 1 Jul 2006

Rodríguez-Pombo Pilar, Navarrete Rosa, Merinero Begoña, Gómez-Puertas Paulino, Ugarte Magdalena

Abstract excerpt

Mutations in any of the three different genes BCKDHA, BCKDHB, and DBT encoding for the E1alpha, E1beta, and E2 catalytic components of the branched-chain alpha-ketoacid dehydrogenase (BCKD) complex can cause maple syrup urine disease (MSUD). The disease presents heterogeneous clinical and molecular phenotypes. Severity of the disease ranges from the classical to the mildest variant types. Here, we describe the...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)
Share to Cohort Studies

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Genetic Complementation Test

Share to Maple Syrup Urine Disease

Share to Models, Molecular

Share to Protein Structure, Tertiary

Share to Protein Subunits

Source

Identifiers

PMID: 16786533
DOI: 10.1002/humu.9428

Genes

BCKDHA
BCKDHB
DBT

Variants

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutational spectrum of maple syrup urine disease in Spain.PMID 16786533Read ↗

Molecular genetics of maple syrup urine disease in the Turkish population.Semantic proximity Read ↗

Maple Syrup Urine Disease in Brazilian Patients: Variants and Clinical Phenotype HeterogeneitySemantic proximity Read ↗

Maple syrup urine disease in Brazilian patients: variants and clinical phenotype heterogeneity.Semantic proximity Read ↗

Identification of twelve novel mutations in patients with classic and variant forms of maple syrup urine disease.Semantic proximity Read ↗

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

Molecular basis of various forms of maple syrup urine disease in Chilean patients.Semantic proximity Read ↗

In silico analysis of novel mutations in maple syrup urine disease patients from Iran.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 ↗

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

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

Analysis of gene mutations in Chinese patients with maple syrup urine disease.Semantic proximity Read ↗

Molecular characterization of maple syrup urine disease patients from Tunisia.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.