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Molecular characterization of five patients with homocystinuria due to severe methylenetetrahydrofolate reductase deficiency

✍ Scribed by R Urreizti; AA Moya-García; A Pino-Ángeles; M Cozar; A Langkilde; U Fanhoe; C Esteves; J Arribas; MA Vilaseca; B Pérez-Dueñas; M Pineda; V González; R Artuch; A Baldellou; L Vilarinho; B Fowler; A Ribes; F Sánchez-Jiménez; D Grinberg; S Balcells

Book ID
110889004
Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
761 KB
Volume
78
Category
Article
ISSN
0009-9163

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## Communicated by Mark Paalman Severe deficiency of methylenetetrahydrofolate reductase (MTHFR) is the most common inborn error of folate metabolism. Patients are characterized by severe hyperhomocysteinemia, homocystinuria and a variety of neurological and vascular problems. Eighteen rare mutatio