A case of 5,10-methenyltetrahydrofolate synthetase deficiency due to biallelic null mutations with novel findings of elevated neopterin and macrocytic anemia-Reference-Cited by-同舟云学术

A case of 5,10-methenyltetrahydrofolate synthetase deficiency due to biallelic null mutations with novel findings of elevated neopterin and macrocytic anemia

Published:2019-12 Issue: Volume:21 Page:100545
ISSN:2214-4269
Container-title:Molecular Genetics and Metabolism Reports
language:en
Short-container-title:Molecular Genetics and Metabolism Reports

Author:

Romero Jacqueline A.,Abdelmoumen Imane,Hasbani Daphne,Khurana Divya S.,Schneider Michael C.

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

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4. 5,10-Methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination;Rodan;Mol. Genet. Metab.,2018

5. Folate receptor alpha defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism;Steinfeld;Am. J. Hum. Genet.,2009

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