title: Infanto-juvenile encephaloneuropathy and pigmentary retinopathy in a girl associated with congenital adrenal insufficiency and altered plasma medium-chain fatty acid levels.
authors.affiliation: Centro per lo studio delle Encefalo-Neuro-Miopatie Genetiche, Università di Siena, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Federico
authors.forename: G
authors.initials: G
authors.lastname: Baracchini
authors.forename: M T
authors.initials: MT
authors.lastname: Dotti
authors.forename: L
authors.initials: L
authors.lastname: Ibba
authors.forename: A
authors.initials: A
authors.lastname: Malandrini
authors.forename: G
authors.initials: G
authors.lastname: Ciacci
authors.forename: M
authors.initials: M
authors.lastname: Meloni
authors.forename: S
authors.initials: S
authors.lastname: Palmeri
authors.forename: A
authors.initials: A
authors.lastname: Pompella
authors.forename: G C
authors.initials: GC
authors.lastname: Guazzi
mesh_terms: D000293:Adolescent; D000309:Adrenal Insufficiency / Q000150:complications / Q000151:congenital* / Q000378:metabolism; D001928:Brain Diseases, Metabolic / Q000150:complications* / Q000378:metabolism; D002648:Child; D005227:Fatty Acids / Q000097:blood*; D005260:Female; D006801:Humans; D008052:Lipid Metabolism, Inborn Errors / Q000150:complications / Q000378:metabolism; D010523:Peripheral Nervous System Diseases / Q000150:complications* / Q000378:metabolism; D012164:Retinal Diseases / Q000150:complications* / Q000378:metabolism
chemical_list: D005227:Fatty Acids