Results 161 to 170 of about 5,605 (209)

Multimodal Therapy Achieves Secondary Prevention LDL-C Targets in LDL-Receptor Null Homozygous Familial Hypercholesterolemia. [PDF]

JACC Case Rep
Alkhairy A, Xiang P, Khoo JK, Taylor CM, Francis GA.   +4 more
europepmc   +1 more source

Gallbladder Agenesis in a Patient With Klinefelter Syndrome Presenting With Hematemesis and Right Upper-Quadrant Pain. [PDF]

Am J Case Rep
Singh G, Petroski J, Marden D, Knauer A.
europepmc   +1 more source

A rare disease gets a breakthrough: Ctexli approved for cerebrotendinous xanthomatosis [PDF]

International Journal of Basic & Clinical Pharmacology
Cerebrotendinous xanthomatosis (CTX) is a rare, autosomal recessive lipid storage disorder caused by mutations in the CYP27A1 gene, leading to sterol 27-hydroxylase deficiency and cholestanol accumulation.
Mohammud W. Ahmud, Muhammad Mustafa, Wajiha Asim   +2 more
semanticscholar   +3 more sources

Device‐Aided Treatment of Parkinsonism in Cerebrotendinous Xanthomatosis [PDF]

Movement Disorders Clinical Practice
Cerebrotendinous xanthomatosis (CTX) is a rare neurometabolic disorder, 1,2 characterized by juvenile cataracts, xanthomas, diarrhea, pyramidal and cerebellar signs, polyneuropathy, neuropsychiatric alterations, epilepsy and movement disorders.
András Salamon, László Szpisjak, Péter Klivényi, D. Zádori   +3 more
semanticscholar   +3 more sources

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Cerebrotendinous Xanthomatosis

The Indian Journal of Pediatrics, 2010
We describe two adolescent Indian siblings with cerebrotendinous xanthomatosis with cognitive impairment, progressive neurological deterioration, juvenile cataracts and chronic diarrhea. Both patients had bilateral Achilles tendon xanthomata. Rapid progression of disease was an unusual finding in these cases.
T. Siman-Tov, N. Gadoth
openaire   +3 more sources

Cerebrotendinous Xanthomatosis

Neurologic Clinics, 1989
Cerebrotendinous xanthomatosis is a rare familial lipid storage that is caused by a defect in bile acid synthesis. As a result, large amounts of cholestanol, the 5 alpha-dihydro derivative of cholesterol, accumulate in virtually every tissue, with extra large deposits in the nervous system, xanthomas, and bile.
V M, Berginer, G, Salen, S, Shefer
openaire   +3 more sources

Cerebrotendinous xanthomatosis revisited

Practical Neurology, 2021
Cerebrotendinous xanthomatosis is a rare autosomal recessive lipid storage syndrome defined clinically by the triad of progressive neurodegeneration, juvenile cataracts and tendon xanthomas in adults. It is treatable, and a prompt diagnosis can improve outcomes. We describe a patient with this condition who presented with progressive ataxia.
Seyed Mohammad Baghbanian, Mohammad Reza Mahdavi Amiri, Hadi Majidi   +2 more
openaire   +2 more sources

Cerebrotendinous xanthomatosis

Current Opinion in Lipidology, 1994
Cerebrotendinous xanthomatosis is an autosomal recessive lipid-storage disease caused by mutations in the sterol 27-hydroxylase (CYP27) gene. Recent cloning and characterization of CYP27 enables further analysis and understanding of the pathophysiology of this multisystem disease.
E, Leitersdorf, V, Meiner
openaire   +2 more sources

Cerebrotendinous xanthomatosis

Journal of the American Academy of Dermatology, 2001
Cerebrotendinous xanthomatosis is a rare autosomal recessive lipid-storage disease caused by mutations in the sterol 27-hydroxylase gene. The accumulation of cholestanol in various tissues characterizes this disease. Diagnosis is based on determination of urinary bile alcohols.
S, Bel, V, García-Patos, L, Rodríguez, A, Selva, P, Díaz, B G, Wolthers, A, Castells   +6 more
openaire   +4 more sources