Index of suspicion.


Hızarcioglu-Gulsen H., Aydemir Y. , Gucer S., Berberoglu-Ates B., Hizal G., Peynircioglu B., ...More

Pediatrics in review, vol.35, pp.531-7, 2014 (Journal Indexed in SCI) identifier identifier

  • Publication Type: Article / Article
  • Volume: 35
  • Publication Date: 2014
  • Doi Number: 10.1542/pir.35-12-531
  • Title of Journal : Pediatrics in review
  • Page Numbers: pp.531-7

Abstract

Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid storage disorder characterized by a heterogeneous presentation and a broad spectrum of clinical manifestations. Since early diagnosis and replacement therapy with chenodeoxycholic acid can prevent clinical deterioration, our aim was to develop a diagnostic tool to identify and treat CTX patients at an initial stage of the disease.