Saudi Medical Journal. 1995; 16 (1): 61-63
em Inglês
| 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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Índice:
IMEMR (Mediterrâneo Oriental)
Assunto principal:
Deficiência Intelectual
Tipo de estudo:
Relato de Casos
Limite:
Humanos
/
Masculino
Idioma:
Inglês
Revista:
Saudi Med. J.
Ano de publicação:
1995
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