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

Genomic analysis of 9 infants with hypermethioninemia by whole-exome sequencing among in Henan, China.

Clinica chimica acta; international journal of clinical chemistry - 1 Aug 2022

Zhao Dehua, Ni Min, Jia Chenlu, Li Xiaole, Zhu Xinyun, Liu Suna, Su Li, Lv Shubo, Wang Liwen, Jia Liting

Abstract excerpt

BACKGROUND: Hypermethioninemia is an inborn error of metabolism with elevated plasma methionine (Met) caused by methionine adenosyltransferase deficiency. Methionine adenosyltransferase (MAT) I/III deficiency is the most common cause of hypermethioninemia. Except for increased blood Met, most patients have no symptoms, but a small number have nervous system complications, including cognitive impairment and mental...

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 Exome Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genomics

Share to Infant

Share to Infant, Newborn

Share to Methionine

Share to Mutation

Share to Tandem Mass Spectrometry

Source

Identifiers

PMID: 35760084
DOI: 10.1016/j.cca.2022.06.021

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genomic analysis of 9 infants with hypermethioninemia by whole-exome sequencing among in Henan, China.PMID 35760084Read ↗

Genetic variation and clinical phenotype analysis of hypermethioninemia caused by MAT1A gene mutation: Case report.Semantic proximity Read ↗

Analysis of five cases of hypermethioninemia diagnosed by neonatal screening.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 and variant analysis for methionine adenosyltransferase I/III deficiency].Semantic proximity Read ↗

Expanded newborn screening for inherited metabolic disorders by tandem mass spectrometry in a northern Chinese populationSemantic proximity Read ↗

Expanded screening for neonatal inherited metabolic disorders by tandem mass spectrometry in an eastern Chinese populationSemantic proximity Read ↗

Tandem Mass Spectrometry Screening for Inborn Errors of Metabolism in Newborns and High-Risk Infants in Southern China: Disease Spectrum and Genetic Characteristics in a Chinese PopulationSemantic proximity Read ↗

Spectrum of mutations associated with methionine adenosyltransferase I/III deficiency among individuals identified during newborn screening in Japan.Semantic proximity Read ↗

Spectrum Analysis of Inherited Metabolic Disorders for Expanded Newborn Screening in a Central Chinese PopulationSemantic proximity Read ↗

Human liver methionine cycle: MAT1A and GNMT gene resequencing, functional genomics, and hepatic genotype-phenotype correlation.Semantic proximity Read ↗

Characteristics, differential diagnosis, individualized treatment, and prevention of hyperhomocysteinemia in newborns.Semantic proximity Read ↗

[Screening for carriers of pathogenic genes for methylmalonic acidemia and Wilson's disease in neonates in Qingdao].Semantic proximity Read ↗

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