TY  - GEN
AU  - Baumgartner,M R
AU  - Hu,C A
AU  - Almashanu,S
AU  - Steel,G
AU  - Obie,C
AU  - Aral,B
AU  - Rabier,D
AU  - Kamoun,P
AU  - Saudubray,J M
AU  - Valle,D
TI  - Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthase
SN  - 0964-6906
PY  - 2001///0103
KW  - Adult
KW  - Amino Acid Metabolism, Inborn Errors
KW  - blood
KW  - Animals
KW  - Arginine
KW  - CHO Cells
KW  - Catalytic Domain
KW  - genetics
KW  - Child
KW  - Citrulline
KW  - Cricetinae
KW  - DNA Mutational Analysis
KW  - Female
KW  - Fibroblasts
KW  - France
KW  - Humans
KW  - Hyperammonemia
KW  - Male
KW  - Mutation
KW  - Ornithine
KW  - Ornithine-Oxo-Acid Transaminase
KW  - Pedigree
KW  - Phenotype
KW  - Proline
KW  - RNA, Messenger
KW  - Transfection
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1093/hmg/9.19.2853
ER  -