Results 41 to 50 of about 7,684 (214)
BMC Neurology, 2011 Background Cerebrotendinous xanthomatosis (CTX) is a rare lipid-storage disease. We investigated the clinic manifestation, histopathology and sterol 27-hydroxylase gene (CYP27A1) in a Chinese family with Cerebrotendinous Xanthomatosis (CTX).
Tian Di, Zhang Zai-qiang
doaj +1 more source
Molecular Genetics and Metabolism Reports, 2015 Cerebrotendinous xanthomatosis is a lipid storage disease characterized by diarrhea, cataract, tendon xanthoma and neurological regression if untreated. CYP27A1 is the only gene in which mutations are known to cause Cerebrotendinous xanthomatosis.
Atanu Kumar Dutta +8 more
doaj +1 more source
Cerebrotendinous xanthomatosis‐associated diarrhea and response to chenodeoxycholic acid treatment
JIMD Reports, 2020 In patients with cerebrotendinous xanthomatosis (CTX), chronic diarrhea is one of the earliest and main symptoms of the disease. In the current study, we evaluated the characteristics of the diarrhea and its response to chenodeoxycholic acid (CDCA ...
E. Brass, B. Stelten, A. Verrips
semanticscholar +1 more source
A rare metabolic disease: cerebrotendinous xanthomatosis
Van Tıp Dergisi, 2019 Cerebrotendinous xanthomatosis is a rare autosomal recessive disorder. It occurs as a mutation in the CYP27A1 gene with nine exons in the Long arm of chromosome 2.
Tülay Kamaşak +6 more
doaj +1 more source
Homozygous familial hypercholesterolemia: case report of a rare cause of dyslipidemia Homozygotyczna rodzinna hipercholesterolemia. Opis przypadku dotyczący rzadkich przyczyn dyslipidemii [PDF]
Pediatric Endocrinology, Diabetes and Metabolism, 2011 A 4-year-old boy was evaluated for severe hypercholesterolemia (cholesterol: 831 mg/dL) and disseminated xanthomas. Both parents had hypercholesterolemia: mother (cholesterol: 308 mg/dL) and father (cholesterol: 281 mg/dL). There was no family history of
Cresio Alves, Zilda Braid
doaj
Bilateral xanthomas of tendoachilles in a patient of cerebro-tendinous xanthomatosis: A case report
Journal of Dr. NTR University of Health Sciences, 2016 Cerebro-tendinous xanthomatosis is a very rare autosomal recessive disorder. An 18-year-old male presented to us with swellings of both tendoachilles, proved to be xanthomas. The diagnosis was confirmed by biochemical, clinical, and radiological studies.
Vutukuru Sri Ravindranath +3 more
doaj +1 more source
Journal of Inherited Metabolic DiseaseCerebrotendinous xanthomatosis is a rare and treatable metabolic disorder related to the accumulation of cholestanol. This disorder is primarily associated with motor and cognitive impairments, although the latter has not been extensively characterized ...
Q. Salardaine +9 more
semanticscholar +1 more source
Increased plasma plant sterol levels in heterozygotes with sitosterolemia and xanthomatosis.
Journal of Lipid Research, 1990 Plasma sterol levels in a family of sitosterolemia and xanthomatosis were determined by a high performance liquid chromatography. Three affected siblings manifested marked xanthomatosis including subcutaneous soft tissues and generalized atherosclerosis.
H Hidaka +9 more
doaj +1 more source
Diagnosis, treatment, and clinical outcomes in 43 cases with cerebrotendinous xanthomatosis.
Journal of Clinical Lipidology, 2018 BACKGROUND Cerebrotendinous xanthomatosis (CTX) is a rare disorder due to defective sterol 27-hydroxylase causing a lack of chenodeoxycholic acid (CDCA) production and high plasma cholestanol levels. OBJECTIVES Our objective was to review the diagnosis
P. B. Duell +16 more
semanticscholar +1 more source
Annals of Translational Medicine, 2020 Background Cerebrotendinous xanthomatosis (CTX) is an inborn disorder of bile acid metabolism caused by deficiency of sterol 27-hydroxylase (CYP27A1) gene. CTX-related peripheral neuropathy has rarely been discussed in Chinese population.
Shu Zhang +8 more
semanticscholar +1 more source