Results 41 to 50 of about 6,190 (205)
Case Report and Current Literature Review of Adult Cerebrotendinous Xanthomatosis: Evaluation of Treatment Response Based on Gait Analysis Adult Cerebrotendinous Xanthomatosis [PDF]
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive neurometabolic disease caused by a mutation in the CYP27A1 gene and deficiency of the mitochondrial 27-sterol hydroxylase enzyme.
Sahin Avci, F. Feriha Ozer, Eser Bulus
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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
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
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Normolipemic xanthomatosis [PDF]
Postgraduate Medical Journal, 1995 Abstract A 20-year-old woman presented with tendon and tuberous xanthomas. Plasma lipid levels were normal. Xanthomatosis with normal lipid levels is rare.
R, Handa, K, Gupta, J P, Wali
openaire +2 more sources
Сerebrotendinous xanthomatosis
Анналы клинической и экспериментальной неврологии, 2017 Cerebrotendinous xanthomatosis is a rare autosomal recessivedisorder of cholesterol and bile acid metabolism associated withthe sterol 27-hydroxylase gene CYP27A1.
G. E. Rudenskaya, E. Yu. Zakharova
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Adult-Onset Treatable Leukodystrophy: Cerebrotendinous Xanthomatosis
Neuropsychiatric Investigation, 2022 Cerebrotendinous xanthomatosis is a leukodystrophy resulting from sterol 27-hydroxylase enzyme deficiency caused by CYP27A1 gene mutations. It is characterized by diarrhea and cataract in children, xanthomas in adolescents, and progressive neurologic ...
Gülçin Benbir Şenel +4 more
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Dermatologica Sinica, 2018 Cerebrotendinous xanthomatosis (CTX), a rare autosomal recessive lipid storage disorder which is caused by mutations in gene CYP27A1 leads to deficiency of enzyme sterol 27-hydroxylase.
Jeng Yuan +3 more
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Endocrinology, Diabetes &Metabolism, Volume 9, Issue 4, July 2026.Early‐onset endocrine salt‐wasting syndromes unrelated to 21‐hydroxylase deficiency overlap markedly at presentation, limiting etiological distinction. In this 20‐patient cohort, disease‐specific patterns emerged during follow‐up, while growth was generally preserved and initial biochemical severity was not associated with later treatment burden or ...
Vittorio Ferrari +7 more
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Egy ritka, veleszületett neurodegeneratív betegség: a cerebrotendinosus xanthomatosis laboratóriumi diagnosztikája [PDF]
, 2014 Cerebrotendinous xanthomatosis is a rare neurodegenerative disease characterized by the accumulation of cholesterol and cholestanol in the brain and the tendons caused by mutations of the gene encoding sterol 27-hydroxylase (CYP27A1), which is involved ...
Katkó Mónika +21 more
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Clinical Case ReportsKey Clinical Message Managing diabetic ketoacidosis (DKA) in individuals with severe dyslipidemia necessitates a comprehensive approach. While rehydration and continuous insulin infusion are fundamental components of DKA management due to the underlying ...
Ankit Shrestha +4 more
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