相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Cholic acid as a treatment for cerebrotendinous xanthomatosis in adults
Daniele Mandia et al.
JOURNAL OF NEUROLOGY (2019)
Long-term treatment effect in cerebrotendinous xanthomatosis depends on age at treatment start
Bianca M. L. Stelten et al.
NEUROLOGY (2019)
Diagnosis, treatment, and clinical outcomes in 43 cases with cerebrotendinous xanthomatosis
P. Barton Duell et al.
JOURNAL OF CLINICAL LIPIDOLOGY (2018)
Nationwide survey on cerebrotendinous xanthomatosis in Japan
Yoshiki Sekijima et al.
JOURNAL OF HUMAN GENETICS (2018)
Natural history of neurological abnormalities in cerebrotendinous xanthomatosis
Janice C. Wong et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2018)
Different phenotypes in identical twins with cerebrotendinous xanthomatosis: case series
Denes Zadori et al.
NEUROLOGICAL SCIENCES (2017)
Epidemiology, diagnosis, and treatment of cerebrotendinous xanthomatosis (CTX)
Gerald Salen et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2017)
The spectrum of magnetic resonance findings in cerebrotendinous xanthomatosis: redefinition and evidence of new markers of disease progression
Andrea Mignarri et al.
JOURNAL OF NEUROLOGY (2017)
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards et al.
GENETICS IN MEDICINE (2015)
A suspicion index for early diagnosis and treatment of cerebrotendinous xanthomatosis
Andrea Mignarri et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2014)
Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management
Shuke Nie et al.
ORPHANET JOURNAL OF RARE DISEASES (2014)
Neurological Outcome in Cerebrotendinous Xanthomatosis Treated With Chenodeoxycholic Acid: Early Versus Late Diagnosis
Gilad Yahalom et al.
CLINICAL NEUROPHARMACOLOGY (2013)
Three siblings with Cerebrotendinous Xanthomatosis: A novel mutation in the CYP27A1 gene
Sunghwan Suh et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2012)
Cerebrotendinous xanthomatosis in Spain: clinical, prognostic, and genetic survey
B. Pilo-de-la-Fuente et al.
EUROPEAN JOURNAL OF NEUROLOGY (2011)
Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene
G. N. Gallus et al.
NEUROLOGICAL SCIENCES (2006)
Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis
A Verrips et al.
BRAIN (2000)
分享论文
