title: [Urgent needs in genetics: clinical diagnosis of acute amino acid disorders of delayed onset].
authors.affiliation: Département de Pédiatrie, Hôpital des Enfants, Paris.
authors.forename: J M
authors.initials: JM
authors.lastname: Saudubray
authors.forename: S
authors.initials: S
authors.lastname: Lyonnet
authors.forename: A
authors.initials: A
authors.lastname: Lombes
authors.forename: F
authors.initials: F
authors.lastname: Hervé
authors.forename: J P
authors.initials: JP
authors.lastname: Bonnefont
authors.forename: A
authors.initials: A
authors.lastname: Munnich
authors.forename: H
authors.initials: H
authors.lastname: Ogier
mesh_terms: 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
chemical_list: D005227:Fatty Acids; D014508:Urea
vernacular_title: Les urgences en génétique: diagnostic clinique des aminoacidopathies à révélation aiguë tardive.