title: Towards a suggestive facial dysmorphism in adenylosuccinate lyase deficiency?
authors.forename: M
authors.initials: M
authors.lastname: Holder-Espinasse
authors.forename: S
authors.initials: S
authors.lastname: Marie
authors.forename: G
authors.initials: G
authors.lastname: Bourrouillou
authors.forename: I
authors.initials: I
authors.lastname: Ceballos-Picot
authors.forename: M-C
authors.initials: MC
authors.lastname: Nassogne
authors.forename: L
authors.initials: L
authors.lastname: Faivre
authors.forename: J
authors.initials: J
authors.lastname: Amiel
authors.forename: A
authors.initials: A
authors.lastname: Munnich
authors.forename: M-F
authors.initials: MF
authors.lastname: Vincent
authors.forename: V
authors.initials: V
authors.lastname: Cormier-Daire
mesh_terms: D000264:Adenylosuccinate Lyase / Q000172:deficiency*; D002675:Child, Preschool; D019066:Facies; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis; D019767:Maxillofacial Abnormalities / Q000473:pathology*; D008954:Models, Biological; D011687:Purines / Q000378:metabolism; D012640:Seizures / Q000175:diagnosis
chemical_list: D011687:Purines; D000264:Adenylosuccinate Lyase