Epidemiology, diagnosis, and treatment of cerebrotendinous xanthomatosis (CTX)

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