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Article

[Newborn screening and variant analysis for methionine adenosyltransferase I/III deficiency].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 May 2020

Lin Chunmei, Zheng Quanzhi, Jiang Mengyi, Lin Yiming

Abstract excerpt

OBJECTIVE: To summarize newborn screening for methionine adenosyltransferase I/III (MAT I/III) deficiency in Quanzhou region of Fujian Province. METHODS: A total of 364 545 neonates were screened for inherited metabolic diseases by tandem mass spectrometry. High-throughput next generation sequencing combined with Sanger sequencing was used to detect potential variants in newborns with MAT I/III deficiency....

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Share to Amino Acid Metabolism, Inborn Errors
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Identifiers

PMID: 32335878
DOI: 10.3760/cma.j.issn.1003-9406.2020.05.008

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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.

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