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

Clinical characteristics and gene mutation analysis of methylmalonic aciduria.

Journal of Huazhong University of Science and Technology. Medical sciences = Hua zhong ke ji da xue xue bao. Yi xue Ying De wen ban = Huazhong keji daxue xuebao. Yixue Yingdewen ban - 1 Jun 2011

Yi Qin, Lv Juanjuan, Tian Fengyan, Wei Hong, Ning Qin, Luo Xiaoping

Abstract excerpt

Methylmalonic aciduria (MMA) is a common inherited autosomal recessive disorder resulting from defects in the enzyme methylmalonyl CoA mutase (MCM, mut complementation group) or in the synthesis of the MCM cofactor adenosylcobalamin (cbl complementation groups). The defects in the mut complementation group accounts for the largest number of patients with isolated MMA. At least 200 mutations in the MUT gene on...

Read the complete abstract on PubMed

Topics

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

Share to Asian People
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Fumarates

Share to Infant

Share to Infant, Newborn

Share to Metabolism, Inborn Errors

Share to Methylmalonyl-CoA Mutase

Source

Identifiers

PMID: 21671183
DOI: 10.1007/s11596-011-0386-3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical characteristics and gene mutation analysis of methylmalonic aciduria.PMID 21671183Read ↗

Clinical features and MUT gene mutation spectrum in Chinese patients with isolated methylmalonic acidemia: identification of ten novel allelic variants.Semantic proximity Read ↗

[Analysis of the MUT gene mutations in patients with methylmalonic acidemia].Semantic proximity Read ↗

Clinical and genetic analysis of methylmalonic aciduria in 60 patients from Southern China: a single center retrospective study.Semantic proximity Read ↗

Clinical spectrum and genetic variation of six patients with methylmalonic aciduria (MMA); a report from Iran.Semantic proximity Read ↗

Evaluation of the clinical, biochemical, genotype and prognosis of mut-type methylmalonic acidemia in 365 Chinese cases.Semantic proximity Read ↗

Clinical and molecular findings in 37 Turkish patients with isolated methylmalonic acidemiaSemantic proximity Read ↗

[Identification of two novel mutations of MUT gene in a Chinese family affected with isolated methylmalonic acidemia].Semantic proximity Read ↗

Mutation analysis and prenatal diagnosis for three families affected by isolated methylmalonic aciduria.Semantic proximity Read ↗

Mutation analysis of the MCM gene in Korean patients with MMA.Semantic proximity Read ↗

[Analysis of MUT gene mutations in a patient with isolated methylmalonic acidemia].Semantic proximity Read ↗

Methylmalonic acidemia: Current status and research prioritiesSemantic proximity Read ↗

Mild clinical features of isolated methylmalonic acidemia associated with a novel variant in the MMAA gene in two Chinese siblings.Semantic proximity Read ↗

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