Infanto-juvenile encephaloneuropathy and pigmentary retinopathy in a girl associated with congenital adrenal insufficiency and altered plasma medium-chain fatty acid levels.
Federico
A
A
Centro per lo studio delle Encefalo-Neuro-Miopatie Genetiche, Università di Siena, Italy.
Baracchini
G
G
Dotti
M T
MT
Ibba
L
L
Malandrini
A
A
Ciacci
G
G
Meloni
M
M
Palmeri
S
S
Pompella
A
A
Guazzi
G C
GC
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
D005227:Fatty Acids