TY  - GEN
AU  - Tessa,Alessandra
AU  - Fiermonte,Giuseppe
AU  - Dionisi-Vici,Carlo
AU  - Paradies,Eleonora
AU  - Baumgartner,Matthias R
AU  - Chien,Yin-Hsiu
AU  - Loguercio,Carmela
AU  - de Baulny,Helene Ogier
AU  - Nassogne,Marie-Cecile
AU  - Schiff,Manuel
AU  - Deodato,Federica
AU  - Parenti,Giancarlo
AU  - Rutledge,S Lane
AU  - Vilaseca,M Antonia
AU  - Melone,Mariarosa A B
AU  - Scarano,Gioacchino
AU  - Aldamiz-Echevarría,Luiz
AU  - Besley,Guy
AU  - Walter,John
AU  - Martinez-Hernandez,Eugenia
AU  - Hernandez,Jose M
AU  - Pierri,Ciro L
AU  - Palmieri,Ferdinando
AU  - Santorelli,Filippo M
TI  - Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study
SN  - 1098-1004
PY  - 2009///0730
KW  - Adult
KW  - Amino Acid Transport Systems, Basic
KW  - chemistry
KW  - Biological Transport
KW  - Child
KW  - Child, Preschool
KW  - Citrulline
KW  - analogs & derivatives
KW  - Escherichia coli
KW  - Female
KW  - Humans
KW  - Hyperammonemia
KW  - epidemiology
KW  - Infant
KW  - Infant, Newborn
KW  - Male
KW  - Middle Aged
KW  - Mitochondrial Membrane Transport Proteins
KW  - Mutant Proteins
KW  - isolation & purification
KW  - Mutation
KW  - genetics
KW  - Ornithine
KW  - blood
KW  - Protein Structure, Secondary
KW  - Syndrome
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/humu.20930
ER  -