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 and mutational features of maternal 3-methylcrotonyl coenzyme deficiency].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Oct 2013

Gong Li-fei, Ye Jun, Han Lian-shu, Qiu Wen-juan, Zhang Hui-wen, Gao Xiao-lan, Jin Jing, Xu Hao, Gu Xue-fan

Abstract excerpt

OBJECTIVE: To report on 5 patients with maternal 3-methylcrotonyl coenzyme A carboxylase deficiency (MCCD) and to confirm the clinical diagnosis through mutation analysis. METHODS: Five neonates with higher blood 3-hydroxy isovalerylcarnitine (C5-OH) concentration detected upon newborn screening with tandem mass spectrometry and their mothers were recruited. Urinary organic acids were analyzed with gas...

Read the complete abstract on PubMed

Topics

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

Share to Carbon-Carbon Ligases
Share to Carnitine

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Genomic Imprinting

Share to Infant, Newborn

Share to Neonatal Screening

Share to Sex Factors

Share to Tandem Mass Spectrometry

Source

Identifiers

PMID: 24078573
DOI: 10.3760/cma.j.issn.1003-9406.2013.05.014

Genes

MCCC1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Clinical and mutational features of maternal 3-methylcrotonyl coenzyme deficiency].PMID 24078573Read ↗

[Clinical and genetic features of children with 3-methylcrotonyl-coenzyme A carboxylase deficiency: an analysis of six cases].Semantic proximity Read ↗

[Follow up and gene mutation analysis in cases suspected as 3-methylcrotonyl-coenzyme A carboxylase deficiency by neonatal screening].Semantic proximity Read ↗

[Genetic analysis of newborns with abnormal metabolism of 3-hydroxyisovalerylcarnitine].Semantic proximity Read ↗

Primary and maternal 3-methylcrotonyl-CoA carboxylase deficiency: insights from the Israel newborn screening program.Semantic proximity Read ↗

[A novel compound heterozygous mutation causing 3-methylcrotonyl-CoA carboxylase deficiency].Semantic proximity Read ↗

Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency in Zhejiang province, China.Semantic proximity Read ↗

3-Methylcrotonyl-CoA carboxylase deficiency newborn screening in a population of 536,008: is routine screening necessary?Semantic proximity Read ↗

Two Novel Heterozygous MCCC1 Mutations in a Neonate with Asymptomatic 3-methylcrotonyl-coenzyme A Carboxylase Deficiency.Semantic proximity Read ↗

Clinical characteristics and genotype analysis of five infants with cblX type of methylmalonic acidemia.Semantic proximity Read ↗

Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment.Semantic proximity Read ↗

Phenotypic and genotypic analysis of children with methylmalonic academia: A single-center study in China and a recent literature review.Semantic proximity Read ↗

Biochemical, molecular and outcome analysis of eight chinese asymptomatic individuals with methyl malonic acidemia detected through newborn screening.Semantic proximity Read ↗

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