Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency. [electronic resource]
- American journal of human genetics Feb 2011
- 216-25 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1537-6605
10.1016/j.ajhg.2011.01.004 doi
Amino Acid Metabolism, Inborn Errors--drug therapy Amino Acid Sequence Anemia, Megaloblastic--drug therapy Base Sequence Biopterins--analogs & derivatives Brain--enzymology Female Folic Acid--cerebrospinal fluid Folic Acid Deficiency--cerebrospinal fluid Humans Infant Leucovorin--therapeutic use Magnetic Resonance Imaging Male Models, Molecular Molecular Sequence Data Pancytopenia--drug therapy Pedigree Protein Conformation Sequence Homology, Amino Acid Tetrahydrofolate Dehydrogenase--chemistry