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

Improving methylmalonic acidemia (MMA) screening and MMA genotype prediction using random forest classifier in two Chinese populations.

European journal of medical research - 10 Nov 2024

Yin Zhe, Zhang Chuan, Dong Rui, Zhang Xinyuan, Song Yingnan, Hao Shengju, Gai Zhongtao, Zhou Bingbo, Hui Ling, Wang Shifan, Xue Huiqin, Cao Zongfu, Liu Yi, Ma Xu

Abstract excerpt

BACKGROUND: Methylmalonic acidemia (MMA) is one of the most common hereditary organic acid metabolism disorders that endangers the lives and health of infants and children. Early detection and intervention before the appearance of a newborn's clinical symptoms can control disease progression and prevent or mitigate its serious consequences. METHODS: 42,004 newborns from two Chinese populations were included in...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Metabolism, Inborn Errors
Share to China

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to East Asian People

Share to Genotype

Share to Infant, Newborn

Share to Machine Learning

Share to Neonatal Screening

Source

Open in PubMed Open full text

Identifiers

PMID: 39523381
DOI: 10.1186/s40001-024-02115-9
PMCID: PMC11552112

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Improving methylmalonic acidemia (MMA) screening and MMA genotype prediction using random forest classifier in two Chinese populations.PMID 39523381Read ↗

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

Combining newborn metabolic and DNA analysis for second-tier testing of methylmalonic acidemia.Semantic proximity Read ↗

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

Newborn Screening for Methylmalonic Acidemia/propionic Acidemia: Systematic Evaluation of a Two-pronged Approach Based on MS/MS and UPLC-MS/MSSemantic proximity Read ↗

Newborn screening for methylmalonic acidemia: insights from a retrospective analysis in Hefei, China.Semantic proximity Read ↗

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

The genotype analysis and prenatal genetic diagnosis among 244 pedigrees with methylmalonic aciduria in China.Semantic proximity Read ↗

Clinical and genotypic analysis of 79 children with methylmalonic acidemia: a retrospective single-center study in China.Semantic proximity Read ↗

Methylmalonic acidemia: Current status and research prioritiesSemantic proximity Read ↗

[Analysis of the regional distribution differences of common variations of the MMACHC gene in cblC methylmalonic acidemia patients].Semantic proximity Read ↗

Impaired Function of a Rare Mutation in the MMUT Gene Causes Methylmalonic Acidemia in a Chinese Patient.Semantic proximity Read ↗

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