[Ichthyosis and steroid sulfatase: study of enzymatic activity in leukocytes and fibroblasts according to the sex and type of ichthyosis]

Autor:	M, Piraud, F, Cambazard, D, Barrut
Jazyk:	francouzština
Rok vydání:	1990
Předmět:	Adult Male Adolescent Ichthyosis Infant Fibroblasts Sex Factors Child Preschool Leukocytes Humans Female Steryl-Sulfatase Sulfatases Child Arylsulfatases
Zdroj:	Pediatrie. 45(2)
ISSN:	0031-4021
Popis:	Steroidsulfatase and arylsulfatase C were determined in fibroblasts and/or leukocytes of patients affected with different types of ichthyosis. Of the 21 patients studied, 11 showed clinical characteristics of X-linked ichthyosis (XLI) and a deficiency of these 2 enzymatic activities. Patients affected with other types of ichthyosis showed no enzymatic deficiency. In XLI families diagnosis of heterozygotes was performed by enzymatic measurements in the 5 patients' mothers studied. In 2 families enzymatic activities were studied in patients' sisters. The validity of these different enzymatic measurements is discussed.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::ac7c969eec7faecb016c467679c6f55f https://pubmed.ncbi.nlm.nih.gov/2158060 Zobrazit plný text záznamu