Results 51 to 60 of about 7,684 (214)

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, Hikmet Abbaszade, Şeyma Tekgül, Nazlı Başak, Hülya Apaydın   +4 more
doaj   +1 more source

Epidemiology, diagnosis, and treatment of cerebrotendinous xanthomatosis (CTX)

Journal of Inherited Metabolic Disease, 2017
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder of bile acid synthesis caused by mutations in the cytochrome P450 CYP27A1 gene that result in production of a defective sterol 27-hydroxylase enzyme.
G. Salen, R. Steiner
semanticscholar   +1 more source

Cerebrotendinous xanthomatosis-a case report with novel compound heterozygous mutation of CYP27A1 gene

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, Pi-Shan Sung, Julia Yu-Yun Lee, Sheau-Chiou Chao   +3 more
doaj   +1 more source

Clinical Presentation and Early Outcomes of Congenital Endocrine Salt‐Wasting Syndromes Unrelated to 21‐Hydroxylase Deficiency

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, Valentina Assirelli, Emma Bonaguri, Giovanni Silva, Rita Ortolano, Federico Baronio, Marcello Lanari, Antonio Balsamo   +7 more
wiley   +1 more source

Eruptive xanthoma as a warning sign of uncontrolled hypertriglyceridemia presenting with acute pancreatitis and uncontrolled type II diabetes mellitus: A case report

Clinical Case Reports
Key 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, Prabin Kumar Bam, Aakash Pandit, Hari Shrestha, Melisha Koirala   +4 more
doaj   +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, Forbes D. Porter, Tatiana Bremova‐Ertl, Uma Ramaswami, Caroline Hastings, Bénédicte Héron, Justin Hopkin, Joella Melville, Hernan Amartino, Mireia del Toro, Federica Deodato, Fatih Ezgü, Paul Gissen, James B. Gibson, Can Ficicioglu, Roberto Giugliani, Orna Staretz‐Chacham, Frances Platt, Nathalie Guffon, Kristina Julich, Nikola Kresojević, Anna Lehman, Yann Nadjar, Susanne A. Schneider, Simon Jones, Eugen Mengel, Michel Tchan, Mark Walterfang, Ozlem Goker‐Alpan, Charlotte Dawson, Sandra Cowie, Toni Mathieson, Elizabeth Berry‐Kravis, Marc C. Patterson   +33 more
wiley   +1 more source

The Genetic Landscape of Hereditary Spastic Paraplegia in Greece

Clinical Genetics, Volume 109, Issue 5, Page 837-846, May 2026.
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, Viorica Chelban, Chrisoula Kartanou, Zoi Kontogeorgiou, Chrysoula Koniari, Nikolaos Ragazos, Charalampos Voudommatis, Kristina Zhelcheska, David S. Lynch, Reza Maroofian, Ehsan Barkhordari, Rahema Mohammad, Ioannis Zaganas, Minas Drakos, Georgia Xiromerisiou, Efthymios Dardiotis, Leonidas Stefanis, Marios Panas, Henry Houlden, Georgia Karadima   +19 more
wiley   +1 more source

Gastric xanthomatosis

Gastrointestinal Endoscopy, 2004
open
Yon Soo, Jeong, Hyojin, Park, Dok Yong, Lee, Sang In, Lee, Chanil, Park   +4 more
openaire   +3 more sources

The safety and effectiveness of chenodeoxycholic acid treatment in patients with cerebrotendinous xanthomatosis: two retrospective cohort studies

Neurological Sciences, 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: one ...
A. Verrips, M. Dotti, A. Mignarri, B. Stelten, S. Verma, A. Federico   +5 more
semanticscholar   +1 more source