Results 41 to 50 of about 7,425 (220)
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
Consensus Paper: Radiological Biomarkers of Cerebellar Diseases [PDF]
, 2015 Hereditary and sporadic cerebellar ataxias represent a vast and still growing group of diseases whose diagnosis and differentiation cannot only rely on clinical evaluation.
A D’Abreu +176 more
core +1 more source
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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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
doaj +1 more source
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
doaj +1 more source
Nerve Ultrasound Detects Peripheral Nerve Enlargement in Cerebrotendinous Xanthomatosis
Muscle &Nerve, EarlyView.ABSTRACT Introduction/Aims Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder caused by variants in the CYP27A1 gene, resulting in cholestanol accumulation in various tissues, including peripheral nerves. Polyneuropathy is common but often under‐recognized in CTX.
Antonio Edvan Camelo‐Filho +8 more
wiley +1 more source
2025 Consensus Clinical Management Guidelines for Niemann‐Pick Disease Type C
Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.ABSTRACT In 2018, the International Niemann‐Pick Disease Alliance (INPDA) and the International Niemann‐Pick Disease Registry (INPDR) developed and published comprehensive clinical management guidelines to support inclusive and standardized care pathways in Niemann‐Pick disease type C (NPC)—an ultra‐rare, autosomal recessive, neurovisceral lysosomal ...
Tarekegn Hiwot +33 more
wiley +1 more source
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
doaj +1 more source