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Sjogren-Larsson syndrome: an inborn error in the fatty alcohol cycle
Saudi Medical Journal. 1995; 16 (1): 61-63
in English | IMEMR | ID: emr-114562
ABSTRACT
A 10-year old Sudanese patient is reported who had the Sjogren-Larsson syndrome presenting with congenital ichthyosis, spastic diplegia and mental retardation. Histology of the skin biopsy confirmed the ichthyosis to be of the lamellar type. Biochemical assay of the fatty alcohol NAD oxidoreductase in the cultured skin fibroblasts from the patient should deficient activity
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Index: IMEMR (Eastern Mediterranean) Main subject: Intellectual Disability Type of study: Case report Limits: Humans / Male Language: English Journal: Saudi Med. J. Year: 1995

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Index: IMEMR (Eastern Mediterranean) Main subject: Intellectual Disability Type of study: Case report Limits: Humans / Male Language: English Journal: Saudi Med. J. Year: 1995