TY  - GEN
AU  - Banka,Siddharth
AU  - Blom,Henk J
AU  - Walter,John
AU  - Aziz,Majid
AU  - Urquhart,Jill
AU  - Clouthier,Christopher M
AU  - Rice,Gillian I
AU  - de Brouwer,Arjan P M
AU  - Hilton,Emma
AU  - Vassallo,Grace
AU  - Will,Andrew
AU  - Smith,Desirée E C
AU  - Smulders,Yvo M
AU  - Wevers,Ron A
AU  - Steinfeld,Robert
AU  - Heales,Simon
AU  - Crow,Yanick J
AU  - Pelletier,Joelle N
AU  - Jones,Simon
AU  - Newman,William G
TI  - Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency
SN  - 1537-6605
PY  - 2011///0329
KW  - Amino Acid Metabolism, Inborn Errors
KW  - drug therapy
KW  - Amino Acid Sequence
KW  - Anemia, Megaloblastic
KW  - Base Sequence
KW  - Biopterins
KW  - analogs & derivatives
KW  - Brain
KW  - enzymology
KW  - Female
KW  - Folic Acid
KW  - cerebrospinal fluid
KW  - Folic Acid Deficiency
KW  - Humans
KW  - Infant
KW  - Leucovorin
KW  - therapeutic use
KW  - Magnetic Resonance Imaging
KW  - Male
KW  - Models, Molecular
KW  - Molecular Sequence Data
KW  - Pancytopenia
KW  - Pedigree
KW  - Protein Conformation
KW  - Sequence Homology, Amino Acid
KW  - Tetrahydrofolate Dehydrogenase
KW  - chemistry
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.ajhg.2011.01.004
ER  -