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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Bibliographic Details
| Main Authors: |
Nada Aljassim, MD, FCCP,
Majid Alfadhel, MD, MHSc, SSC-Ped, ABHS(CH), FCCMG,
Marwan Nashabat, MD,
Wafa Eyaid, MD, FACMG |
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| Format: | Article
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| Language: | English |
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| Published: |
Elsevier
2020-12-01
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| Series: | Molecular Genetics and Metabolism Reports
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| Subjects: | |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2214426920300902
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