[Gene mutations in a newborn infant with hypermethioninemia].

No abstract is available for this paper.

• Publication year

  2017

• Venue

  Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics

• Publication date

  2017-09-01

• Fields of study

  Biology, Medicine

• Identifiers
  PMID 28899475PMCID PMC7403066
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Mechanistic basis of hypermethioninemia

  2016cited by this paper
• Spectrum of mutations associated with methionine adenosyltransferase I/III deficiency among individuals identified during newborn screening in Japan.

  2013cited by this paper
• Hypermethioninemias of genetic and non‐genetic origin: A review

  2011cited by this paper
• Hypermethioninaemia due to methionine adenosyltransferase I/III (MAT I/III) deficiency: Diagnosis in an expanded neonatal screening programme

  2008cited by this paper
• Spectrum of hypermethioninemia in neonatal screening.

  2005cited by this paper
• Dominant inheritance of isolated hypermethioninemia is associated with a mutation in the human methionine adenosyltransferase 1A gene.

  1997cited by this paper

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

  2022cites this paper