标题
Epidemiology, diagnosis, and treatment of cerebrotendinous xanthomatosis (CTX)
作者
关键词
-
出版物
JOURNAL OF INHERITED METABOLIC DISEASE
Volume 40, Issue 6, Pages 771-781
出版商
Springer Nature
发表日期
2017-10-04
DOI
10.1007/s10545-017-0093-8
参考文献
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。- A newborn screening method for cerebrotendinous xanthomatosis using bile alcohol glucuronides and metabolite ratios
- (2017) Frédéric M. Vaz et al. JOURNAL OF LIPID RESEARCH
- Bile acid analysis in human disorders of bile acid biosynthesis
- (2017) Frédéric. M. Vaz et al. MOLECULAR ASPECTS OF MEDICINE
- Late-onset spinal form xanthomatosis without brain lesion: a case report
- (2016) Masaru Yanagihashi et al. BMC Neurology
- The wide spectrum of cerebrotendinous xanthomatosis: Case report of a rare but treatable disease
- (2016) Francesca Rosafio et al. CLINICAL NEUROLOGY AND NEUROSURGERY
- Cerebrotendinous Xanthomatosis
- (2016) Katherine Marie Varman et al. JCR-JOURNAL OF CLINICAL RHEUMATOLOGY
- Different phenotypes in identical twins with cerebrotendinous xanthomatosis: case series
- (2016) Dénes Zádori et al. NEUROLOGICAL SCIENCES
- Natural history of cerebrotendinous xanthomatosis: a paediatric disease diagnosed in adulthood
- (2016) Bertrand Degos et al. Orphanet Journal of Rare Diseases
- Nueva mutación para xantomatosis cerebrotendinosa causa demencia temprana familiar en Colombia
- (2015) Margarita Giraldo-Chica et al. Biomedica
- Hepatotoxicity due to chenodeoxycholic acid supplementation in an infant with cerebrotendinous xanthomatosis: implications for treatment
- (2015) Hidde H. Huidekoper et al. EUROPEAN JOURNAL OF PEDIATRICS
- Enlarging brain xanthomas in a patient with cerebrotendinous xanthomatosis
- (2015) M. Brienza et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Evaluation of cholesterol metabolism in cerebrotendinous xanthomatosis
- (2015) Andrea Mignarri et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Apparent underdiagnosis of Cerebrotendinous Xanthomatosis revealed by analysis of ~60,000 human exomes
- (2015) Vivek Appadurai et al. MOLECULAR GENETICS AND METABOLISM
- A useful multi-analyte blood test for cerebrotendinous xanthomatosis
- (2014) Andrea E. DeBarber et al. CLINICAL BIOCHEMISTRY
- Clinical and Radiological Findings of a Cerebrotendinous Xanthomatosis Patient with a Novel p.A335V Mutation in the CYP27A1 Gene
- (2014) Tsuneaki Yoshinaga et al. INTERNAL MEDICINE
- Cholestenoic acids regulate motor neuron survival via liver X receptors
- (2014) Spyridon Theofilopoulos et al. JOURNAL OF CLINICAL INVESTIGATION
- Look carefully to the heels! A potentially treatable cause of spastic paraplegia
- (2014) Jonas Alex Saute et al. JOURNAL OF INHERITED METABOLIC DISEASE
- A suspicion index for early diagnosis and treatment of cerebrotendinous xanthomatosis
- (2014) Andrea Mignarri et al. JOURNAL OF INHERITED METABOLIC DISEASE
- On the formation of 7-ketocholesterol from 7-dehydrocholesterol in patients with CTX and SLO
- (2014) Ingemar Björkhem et al. JOURNAL OF LIPID RESEARCH
- Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management
- (2014) Shuke Nie et al. Orphanet Journal of Rare Diseases
- Neurological Outcome in Cerebrotendinous Xanthomatosis Treated With Chenodeoxycholic Acid
- (2013) Gilad Yahalom et al. CLINICAL NEUROPHARMACOLOGY
- A blood test for cerebrotendinous xanthomatosis with potential for disease detection in newborns
- (2013) Andrea E. DeBarber et al. JOURNAL OF LIPID RESEARCH
- Psychiatric manifestations in cerebrotendinous xanthomatosis
- (2013) M J Fraidakis Translational Psychiatry
- Long-Term Bone Density Evaluation in Cerebrotendinous Xanthomatosis: Evidence of Improvement after Chenodeoxycholic Acid Treatment
- (2012) Giuseppe Martini et al. CALCIFIED TISSUE INTERNATIONAL
- Polyneuropathy in cerebrotendinous xanthomatosis and response to treatment with chenodeoxycholic acid
- (2012) F. Ginanneschi et al. JOURNAL OF NEUROLOGY
- Cerebrotendinous xanthomatosis in Spain: clinical, prognostic, and genetic survey
- (2011) B. Pilo-de-la-Fuente et al. EUROPEAN JOURNAL OF NEUROLOGY
- Cytochrome P450s in the synthesis of cholesterol and bile acids - from mouse models to human diseases
- (2011) Gregor Lorbek et al. FEBS Journal
- MR Spectroscopy Detects Lipid Peaks in Cerebrotendinous Xanthomatosis
- (2010) E.K. Embiruçu et al. AMERICAN JOURNAL OF NEURORADIOLOGY
- Cerebrotendinous xanthomatosis: An inborn error in bile acid synthesis with defined mutations but still a challenge
- (2010) Ingemar Björkhem et al. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
- Profiling sterols in cerebrotendinous xanthomatosis: Utility of Girard derivatization and high resolution exact mass LC–ESI-MSn analysis
- (2010) Andrea E. DeBarber et al. JOURNAL OF CHROMATOGRAPHY B-ANALYTICAL TECHNOLOGIES IN THE BIOMEDICAL AND LIFE SCIENCES
- On the mechanism of accumulation of cholestanol in the brain of mice with a disruption of sterol 27-hydroxylase
- (2010) Ann Båvner et al. JOURNAL OF LIPID RESEARCH
- Clinical relevance of brain volume changes in patients with cerebrotendinous xanthomatosis
- (2010) S. Guerrera et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- Genetic Testing in Israel: An Overview
- (2009) Guy Rosner et al. Annual Review of Genomics and Human Genetics
- ESI-MS/MS quantification of 7α-hydroxy-4-cholesten-3-one facilitates rapid, convenient diagnostic testing for cerebrotendinous xanthomatosis
- (2009) Andrea E. DeBarber et al. CLINICA CHIMICA ACTA
- Population screening in a Druze community: the challenge and the reward
- (2008) Tzipora C Falik-Zaccai et al. GENETICS IN MEDICINE
- Cerebrotendinous xanthomatosis: Neuropathological findings
- (2008) B. Pilo de la Fuente et al. JOURNAL OF NEUROLOGY
- Chronic Diarrhea and Juvenile Cataracts: Think Cerebrotendinous Xanthomatosis and Treat
- (2008) V. M. Berginer et al. PEDIATRICS
Publish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn MoreBecome a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get Started