[Urgent needs in genetics: clinical diagnosis of acute amino acid disorders of delayed onset].
Saudubray
J M
JM
Département de Pédiatrie, Hôpital des Enfants, Paris.
Lyonnet
S
S
Lombes
A
A
Hervé
F
F
Bonnefont
J P
JP
Munnich
A
A
Ogier
H
H
D000208:Acute Disease; D000367:Age Factors; D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics; D002648:Child; D003128:Coma / Q000209:etiology; D003937:Diagnosis, Differential; D005227:Fatty Acids / Q000378:metabolism; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D014508:Urea / Q000378:metabolism
D005227:Fatty Acids; D014508:Urea
Les urgences en génétique: diagnostic clinique des aminoacidopathies à révélation aiguë tardive.