Interventions: The patient was treated with chenodeoxycholic acid (250 mg 3 times per day).
Outcomes: To date, the patient's bilateral xanthomas of the Achilles tendon have begun to …

Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid storage disorder
caused by mutations in the CYP27A1 gene, which encodes the mitochondrial enzyme sterol …

Cerebrotendinous xanthomatosis (CTX) is an inborn error of metabolism caused by
recessive variants in the cytochrome P450 CYP27A1 gene. CTX is said to manifest with …

Purpose To determine the prevalence of cerebrotendinous xanthomatosis (CTX) in patients
with idiopathic bilateral juvenile cataract in Turkey. Methods In this multicenter …

Background Classic cerebrotendinous xanthomatosis (CTX; OMIM# 213700) manifests with
chronic diarrhea, juvenile cataracts, tendon xanthomas and neurological symptoms. It is due …

Objective Cerebrotendinous xanthomatosis (CTX) is an inherited metabolic disorder
characterized by progressive neurologic and extraneurologic findings. The aim of this …

低血糖脑病常表现为精神行为异常和意识障碍, 临床表现缺乏特异性. 部分患者甚至仅表现为
急性局灶性神经功能缺损症状且缺乏糖尿病相关病史, 给临床诊断带来了巨大挑战. 除此之外 …

Background Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid
storage disorder that leads to multisystem involvement. It is caused by mutations in the …

Giriş ve amaç: Serebrotendinöz ksantomatozis (CTX; OMIM# 213700), vücutta kolestanol
birikimi ile karakterize, otozomalresesif geçişli safra asit sentezi metabolizması …

Background: Hereditary spastic paraplegias type 5 (SPG5) is an inherited
neurodegenerative disease with 27-hydroxycholesterol abnormal accumulation. Imaging …