Life-threatening methylenetetrahydrofolate reductase (MTHFR) deficiency with extremely early onset: Characterization of two novel mutations in compound heterozygous patients-Reference-Cited by-同舟云学术

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Life-threatening methylenetetrahydrofolate reductase (MTHFR) deficiency with extremely early onset: Characterization of two novel mutations in compound heterozygous patients

Published:2010-06 Issue:2 Volume:100 Page:143-148
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Forges Thierry,Chery Céline,Audonnet Sandra,Feillet François,Gueant Jean-Louis

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Cited by 24 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Diverse avenues of research support the transmethylation theory of psychosis: implications for neuroprotection;Exploration of Neuroprotective Therapy;2024-05-15

2. Novel compound heterozygous mutations of MTHFR Gene in a Chinese family with homocystinuria due to MTHFR deficiency;BMC Medical Genomics;2022-12-25

3. Hypoventilation and progressive encephalopathy in a neonate with MTHFR deficiency;BMJ Case Reports;2022-01

4. Variable neurological phenotypes of homocystinuria caused by biallelic methylenetetrahydrofolate reductase variants;Clinical Dysmorphology;2021-11-29

5. Association of three missense mutations in the homocysteine-related MTHFR and MTRR gene with risk of polycystic ovary syndrome in Southern Chinese women;Reproductive Biology and Endocrinology;2021-01-07

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