Infanto-juvenile encephaloneuropathy and pigmentary retinopathy in a girl associated with congenital adrenal insufficiency and altered plasma medium-chain fatty acid levels.

Federico, A; Baracchini, G; Dotti, M T; Ibba, L; Malandrini, A; Ciacci, G; Meloni, M; Palmeri, S; Pompella, A; Guazzi, G C

Federico, A; Baracchini, G; Dotti, M T; Ibba, L; Malandrini, A; Ciacci, G; Meloni, M; Palmeri, S; Pompella, A; Guazzi, G C.

Affiliation

Federico A; Centro per lo studio delle Encefalo-Neuro-Miopatie Genetiche, Università di Siena, Italy.

J Inherit Metab Dis ; 11 Suppl 2: 178-82, 1988.

Article in En | MEDLINE | ID: mdl-2846958

Subject(s)

Adrenal Insufficiency/congenital; Brain Diseases, Metabolic/complications; Fatty Acids/blood; Peripheral Nervous System Diseases/complications; Retinal Diseases/complications; Adolescent; Adrenal Insufficiency/complications; Adrenal Insufficiency/metabolism; Brain Diseases, Metabolic/metabolism; Child; Female; Humans; Lipid Metabolism, Inborn Errors/complications; Lipid Metabolism, Inborn Errors/metabolism; Peripheral Nervous System Diseases/metabolism; Retinal Diseases/metabolism

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Collection: 01-internacional Database: MEDLINE Main subject: Retinal Diseases / Brain Diseases, Metabolic / Adrenal Insufficiency / Peripheral Nervous System Diseases / Fatty Acids Type of study: Risk_factors_studies Limits: Adolescent / Child / Female / Humans Language: En Journal: J Inherit Metab Dis Year: 1988 Document type: Article Affiliation country: Italy

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