Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment.

Burda, P; Kuster, A; Hjalmarson, O; Suormala, T; Bürer, C; Lutz, S; Roussey, G; Christa, L; Asin-Cayuela, J; Kollberg, G; Andersson, B A; Watkins, D; Rosenblatt, D S; Fowler, B; Holme, E; Froese, D S; Baumgartner, M R

Burda, P; Kuster, A; Hjalmarson, O; Suormala, T; Bürer, C; Lutz, S; Roussey, G; Christa, L; Asin-Cayuela, J; Kollberg, G; Andersson, B A; Watkins, D; Rosenblatt, D S; Fowler, B; Holme, E; Froese, D S; Baumgartner, M R.

Affiliation

Burda P; Division of Metabolism and Children's Research Center, University Children's Hospital, Steinwiesstrasse 75, 8032, Zurich, Switzerland.

J Inherit Metab Dis ; 38(5): 863-72, 2015 Sep.

Article in En | MEDLINE | ID: mdl-25633902

Subject(s)

Folic Acid/therapeutic use; Leucovorin/therapeutic use; Methylenetetrahydrofolate Dehydrogenase (NADP)/deficiency; Methylenetetrahydrofolate Dehydrogenase (NADP)/genetics; Anemia, Megaloblastic/drug therapy; Anemia, Megaloblastic/genetics; Anemia, Megaloblastic/pathology; Cells, Cultured; Fatal Outcome; Female; Folic Acid Deficiency/drug therapy; Folic Acid Deficiency/genetics; Folic Acid Deficiency/pathology; Humans; Hyperhomocysteinemia/drug therapy; Hyperhomocysteinemia/genetics; Hyperhomocysteinemia/pathology; Infant; Infant, Newborn; Male; Minor Histocompatibility Antigens; Severe Combined Immunodeficiency/drug therapy; Severe Combined Immunodeficiency/genetics; Severe Combined Immunodeficiency/pathology; Young Adult

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Leucovorin / Folic Acid / Methylenetetrahydrofolate Dehydrogenase (NADP) Type of study: Prognostic_studies Limits: Adult / Female / Humans / Infant / Male / Newborn Language: En Journal: J Inherit Metab Dis Year: 2015 Type: Article Affiliation country: Switzerland

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