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Clinical presentation of seven patients with Methylenetetrahydrofolate reductase deficiency

Methylenetetrahydrofolate reductase deficiency; MTHFR (MIM 236250) is widely studied with more than 200 reported cases up to our knowledge from pediatrics to adult patients. Clinical presentation of MTHFR deficiency has a wide spectrum and its severity correlates with the degree of the enzyme activi...

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Wedi'i Gadw mewn:
Prif Awduron: Nada Aljassim, MD, FCCP, Majid Alfadhel, MD, MHSc, SSC-Ped, ABHS(CH), FCCMG, Marwan Nashabat, MD, Wafa Eyaid, MD, FACMG
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Elsevier 2020-12-01
Cyfres:Molecular Genetics and Metabolism Reports
Pynciau:
Apnea
Homocysteine (HYC)
Hydrocephalus
Methylenetetrahydrofolate reductase (MTHFR)
Mynediad Ar-lein:http://www.sciencedirect.com/science/article/pii/S2214426920300902
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