Index of suspicion.

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

Pediatrics in review, cilt.35, ss.531-7, 2014 (SCI-Expanded) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 35
  • Basım Tarihi: 2014
  • Doi Numarası: 10.1542/pir.35-12-531
  • Dergi Adı: Pediatrics in review
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.531-7
  • Eskişehir Osmangazi Üniversitesi Adresli: Hayır

Özet

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.