Fucosidosis with hypothyroidism: a case report

Onenli-Mungan N., Ozer G., Altunbasak S., Besley G., Yuksel B., Topaloglu A., ...More

TURKISH JOURNAL OF PEDIATRICS, vol.46, no.2, pp.170-173, 2004 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 46 Issue: 2
  • Publication Date: 2004
  • Journal Name: TURKISH JOURNAL OF PEDIATRICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.170-173
  • Çukurova University Affiliated: No

Abstract

Fucosidosis is a rare, autosomal recessive lysosomal storage disorder caused by a severe deficiency of alpha-L-fucosidase.