Banka, Siddharth

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