Evaluation of cholesterol metabolism in cerebrotendinous xanthomatosis

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

Potency of Individual Bile Acids to Regulate Bile Acid Synthesis and Transport Genes in Primary Human Hepatocyte Cultures

(2014) Jie Liu et al.   TOXICOLOGICAL SCIENCES

Neurological Outcome in Cerebrotendinous Xanthomatosis Treated With Chenodeoxycholic Acid

(2013) Gilad Yahalom et al.   CLINICAL NEUROPHARMACOLOGY

Cerebrotendinous xanthomatosis

(2013) Ingemar Björkhem   CURRENT OPINION IN LIPIDOLOGY

On the regulatory role of side-chain hydroxylated oxysterols in the brain. Lessons from CYP27A1 transgenic andCyp27a1−/−mice

(2013) Zeina Ali et al.   JOURNAL OF LIPID RESEARCH

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

Atypical parkinsonism and cerebrotendinous xanthomatosis: Report of a family with corticobasal syndrome and a literature review

(2012) Ignacio Rubio-Agusti et al.   MOVEMENT DISORDERS

Cerebrotendinous xanthomatosis with progressive cerebellar vacuolation

(2012) Andrea Mignarri et al.   NEURORADIOLOGY

27-Hydroxycholesterol, does it exist? On the nomenclature and stereochemistry of 26-hydroxylated sterols

(2012) Robert J. Fakheri et al.   STEROIDS

Oxysterols as biomarkers in neurodegenerative diseases

(2011) Valerio Leoni et al.   CHEMISTRY AND PHYSICS OF LIPIDS

Cerebrotendinous xanthomatosis in Spain: clinical, prognostic, and genetic survey

(2011) B. Pilo-de-la-Fuente et al.   EUROPEAN JOURNAL OF NEUROLOGY

Utilidad de los niveles de colestanol en el diagnóstico y seguimiento de los pacientes con xantomatosis cerebrotendinosa

(2011) B. Pilo de la Fuente et al.   NEUROLOGIA

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

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 and neurophysiological correlates of spasticity in cerebrotendinous xanthomatosis

(2010) A. Mignarri et al.   JOURNAL OF NEUROLOGY

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

Measurement of serum 7α-hydroxy-4-cholesten-3-one (or 7αC4), a surrogate test for bile acid malabsorption in health, ileal disease and irritable bowel syndrome using liquid chromatography-tandem mass spectrometry

(2009) m. camilleri et al.   NEUROGASTROENTEROLOGY AND MOTILITY

Elevated cholesterol precursors other than cholestanol can also be a hallmark for CTX

(2008) M. G. M. de Sain-van der Velden et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Chronic Diarrhea and Juvenile Cataracts: Think Cerebrotendinous Xanthomatosis and Treat

(2008) V. M. Berginer et al.   PEDIATRICS

Correlation between plasma levels of 7α-hydroxy-4-cholesten-3-one and cholesterol 7α-hydroxylation rates in vivo in hyperlipidemic patients

(2008) Marco Bertolotti et al.   STEROIDS