换一批
换一批A case of 5,10-methenyltetrahydrofolate synthetase deficiency due to biallelic null mutations with novel findings of elevated neopterin and macrocytic anemia.
第一作者：
Jacqueline A,Romero
第一单位：
Section of Neurology, Department of Pediatrics, St. Christopher's Hospital for Children, Drexel University College of Medicine, Philadelphia, PA, USA.
作者：
关键词
5,10-methenyltetrahydrofolate synthetase5-MTHF, 5-methyl tetrahydrofolate5-formyl THF, 5-formyl tetrahydrofolateAICARFT, phosphoribosylaminoimidazolecarboxamide formyltransferaseBH4, tetrahydrobiopterinCerebral hypomyelinationFolateMTHFSMTHFS, 5,10-methenyltetrahydrofolate synthetaseSAM, S-adenosylmethionineSHMT, serine hydroxymethyltransferase
DOI
10.1016/j.ymgmr.2019.100545
PMID
31844630
发布时间
2020-10-01
- 浏览0
Molecular genetics and metabolism reports
2019年21卷
100545页
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