Index of suspicion.

Hızarcioglu-Gulsen, Hayriye; Aydemir, YUSUF; Gucer, Safak; Berberoglu-Ates, Burcu; Hizal, Gulin; Peynircioglu, Bora; Saltik-Temizel, Inci; Chawla, Harmanpreet; Schwartzberg, Paul; Nakhleh, Nader; Loveridge-Lenza, Beth; Ballance, Cathleen; Sultan, Richard; Naganathan, Srividya; Ngido, Fabian; Misra, Sudipta

doi:10.1542/pir.35-12-531

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, Scopus)

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.