Gene: [13q34/HHH] hyperornithinemia-hyperammonemia-homocitrullinemia syndrome; [HHHS ]
|
REF |
PHE,PAT,FOG "Fell &: Am J Dis Child, 127, 752-756, 1974 PHE,PAT,FOG "Gatfield &: Pediatr Res, 9, 488-497, 1975 PHE,PAT,FOG "Gray &: Clin Chim Acta, 118, 141-148, 1982 PHE,PAT,FOG "Haust, Gordon: Birth Def Orig Art Ser, 13, 17-45, 1977 PHE,PAT,FOG "Hommes &: Neuropediat, 17, 48-52, 1986 PHE,PAT,FOG "Koike &: Neurology, 37, 1813-1815, 1987 PHE,PAT,FOG "Rodes &: J Inherit Metab Dis, 10, 73-81, 1987 PHE,PAT,FOG "Shih &: Am J Dis Child, 117, 83-92, 1969 PHE,PAT,FOG "Simmel &: Pediatr Res, 19, 1283-1287, 1985 LOC,LIN "Vici &: Pediatr Res, 22, 364-367, 1987 |
|
KEY |
mtbd, neu |
|
CLA |
unknown, basic |
|
LOC |
13 q34 |
|
MIM |
MIM: 238970 |
|
SYN |
HHHS |
