Article
Mucopolysaccharidosis type I: clinical and biochemical study.
Eastern Mediterranean health journal = La revue de sante de la Mediterranee orientale = al-Majallah al-sihhiyah li-sharq al-mutawassit - 1 Jan 2000
Bassyouni H T, Afifi H H, el-Awadi M K, Meguid N A
Abstract excerpt
Of 1240 outpatients referred to the Human Genetics Clinic between 1997 and 1998, 248 (20%) had inborn errors of metabolism, 36 (14%) of which were diagnosed as mucopolysaccharidoses. Parental consanguinity was present in 82% of these patients. Deficiency of alpha-L-iduronidase (IDUA) enzyme in leukocytes and increased urinary mucopolysaccharides excretion were detected in 17 patients. The urinary spot test for...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.