Neonatal form of the hyperornithinaemia, hyperammonaemia, and homocitrullinuria (HHH) syndrome and prenatal diagnosis.
Shih
V E
VE
Neurology Service, Massachusetts General Hospital, Boston.
Laframboise
R
R
Mandell
R
R
Pichette
J
J
D000592:Amino Acid Metabolism, Inborn Errors / Q000378:metabolism*; D000641:Ammonia / Q000097:blood*; D002478:Cells, Cultured / Q000378:metabolism; D002956:Citrulline / Q000031:analogs & derivatives* / Q000652:urine; D005260:Female; D005865:Gestational Age; D006514:Hepatitis B Surface Antigens / Q000032:analysis; D006801:Humans; D006819:Hyaline Membrane Disease / Q000473:pathology; D007231:Infant, Newborn; D008297:Male; D009952:Ornithine / Q000097:blood*; D020163:Ornithine Carbamoyltransferase Deficiency Disease; D009953:Ornithine-Oxo-Acid Transaminase / Q000172:deficiency*; D011247:Pregnancy; D011256:Pregnancy Outcome; D011296:Prenatal Diagnosis; D013577:Syndrome
D006514:Hepatitis B Surface Antigens; C001352:homocitrulline; D002956:Citrulline; D000641:Ammonia; D009952:Ornithine; D009953:Ornithine-Oxo-Acid Transaminase