TY  - GEN
AU  - Caldovic,Ljubica
AU  - Morizono,Hiroki
AU  - Panglao,Maria G
AU  - Lopez,Giselle Y
AU  - Shi,Dashuang
AU  - Summar,Marshall L
AU  - Tuchman,Mendel
TI  - Late onset N-acetylglutamate synthase deficiency caused by hypomorphic alleles
SN  - 1098-1004
PY  - 2006///0516
KW  - Adult
KW  - Age of Onset
KW  - Alleles
KW  - Amino Acid Sequence
KW  - Amino Acid Substitution
KW  - Amino-Acid N-Acetyltransferase
KW  - chemistry
KW  - Animals
KW  - Brain Death
KW  - Catalysis
KW  - Child
KW  - Consensus Sequence
KW  - DNA Mutational Analysis
KW  - Dietary Proteins
KW  - adverse effects
KW  - Fatal Outcome
KW  - Female
KW  - Glutamates
KW  - metabolism
KW  - Glutamic Acid
KW  - Humans
KW  - Hyperammonemia
KW  - enzymology
KW  - Infant, Newborn
KW  - Learning Disabilities
KW  - genetics
KW  - Male
KW  - Molecular Sequence Data
KW  - Multiple Trauma
KW  - surgery
KW  - Mutagenesis, Site-Directed
KW  - Mutation, Missense
KW  - Point Mutation
KW  - Postoperative Complications
KW  - RNA Splice Sites
KW  - Recombinant Fusion Proteins
KW  - Substrate Specificity
KW  - Urea
KW  - Vertebrates
N1  - Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S
UR  - https://doi.org/10.1002/humu.20146
ER  -