Cerebrotendinous xanthomatosis: Clinical and neuroimaging findings
Archives of Medicine and Health Sciences, 2020 Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder of effective bile acid biosynthesis (adult lipid storage disorder with the underlying mutation in the CYP27 gene, which encodes sterol 27-hydroxylase, a key enzyme in the ...
S Sheetal, P Byju
doaj +1 more source
A case report on cerebrotendinous xanthomatosis [PDF]
, 2017 Cerebrotendinous xanthomatosis (CTX) is a rare hereditary neuro-metabolic disease in which deposition of cholesterol and cholestanol occurs in various tissues including CNS.
Babu, Abino Mariya +4 more
core +2 more sources
Context-dependent compensation among phosphatidylserine-recognition receptors [PDF]
, 2017 Phagocytes express multiple phosphatidylserine (PtdSer) receptors that recognize apoptotic cells. It is unknown whether these receptors are interchangeable or if they play unique roles during cell clearance.
Han, Claudia Z +11 more
core +3 more sources
Cerebrotendinous xanthomatosis - A case report
Indian Journal of Radiology and Imaging, 2019 Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder resulting from a defective enzyme in bile acid synthesis pathway leading to neurological, ocular, vascular, and musculoskeletal symptoms from deposition of cholestanol and ...
Arshed Hussain Parry +3 more
doaj +1 more source
Genetic Diagnosis in Movement Disorders. Use of Whole-Exome Sequencing in Clinical Practice [PDF]
, 2022 Use of next-generation sequencing, including whole-exome sequencing (WES) has not only allowed diagnosis to be reached in patients with atypical phenotypes, but also led to detection of new pathogenic variants, as well as to linking of specific clinical ...
Merello, Marcelo Jorge +3 more
core +1 more source
Vitamin D: Newer Concepts of Its Metabolism and Function at the Basic and Clinical Level. [PDF]
, 2020 The interest in vitamin D continues unabated with thousands of publications contributing to a vast and growing literature each year. It is widely recognized that the vitamin D receptor (VDR) and the enzymes that metabolize vitamin D are found in many ...
Bikle, Daniel D
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Tendon xanthomas as indicators of atherosclerotic burden on coronary arteries
Indian Heart Journal, 2013 The presence of tendon xanthomas is an almost certain indicator of familial hypercholesterolemia (FH). They also reflect coronary atherosclerotic burden and therefore must be treated aggressively.
Shivanand Patil +3 more
doaj +1 more source
The safety and effectiveness of chenodeoxycholic acid treatment in patients withcerebrotendinous xanthomatosis:two retrospective cohort studies. [PDF]
, 2019 Objective: To evaluate the safety and effectiveness of chenodeoxycholic acid (CDCA) treatment in patients with cerebrotendinous xanthomatosis (CTX). Methods: Two retrospective cohort studies were conducted in CTX patients who underwent CDCA treatment ...
Dotti, M. T. +5 more
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The Genetic Landscape of Hereditary Spastic Paraplegia in Greece
Clinical Genetics, EarlyView.We investigated 112 Greek index‐cases with hereditary spastic paraplegia collected over > 25 years using NGS and MLPA. We identified a causative variant in 68 patients (60.7%), including 7 novel causative variants. This study presents a comprehensive overview of the phenotypic and genotypic spectrum of HSP in the Greek population.
Georgios Koutsis +19 more
wiley +1 more source
Clinical features and genetic analysis of a Brazilian patient with sitosterolemia: a case report [PDF]
Archives of Endocrinology and MetabolismSitosterolemia is a rare genetic lipid disorder caused by mutations in the ABCG5/ABCG8, genes. It is characterized by plasmatic plant sterols accumulation, formation of tendon and tuberous xanthomas and early onset coronary artery disease.
Felipe Augusto Azevedo Leão +3 more
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