Results 51 to 60 of about 4,294 (176)

Efficacy, safety, and tolerability of chenodeoxycholic acid (CDCA) in adult patients with cerebrotendinous xanthomatosis (RESTORE): a randomized withdrawal, double-blind, placebo-controlled, crossover phase 3 study.

Genetics in Medicine
BACKGROUND Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder caused by pathogenic variants in CYP27A1 resulting in sterol 27-hydroxylase deficiency and accumulation of cholestanol and bile alcohols.
Y. Kisanuki, Paulo Nobrega, Ryan Himes, S. Jayadev, John A. Bernat, Vikram Prakash, James Gibson, Austin Larson, Paulo Sgobbi, Andrea Debarber, Edward Murphy, Brian Fedor, Cheryl Wong Po Foo, Rana Dutta, Michael Imperiale, W. Garner, Joanne Quan, P. Vig, P. B. Duell, Sarah Perez, Ritesh A. Ramdhani, J. Saute, Sarah J. Feddersen, M.D. Holida, Alpa Sidhu, Theresa M. Czech, Alina Dumitrescu, Johanna Henriques Nehm, Ana Luísa Dubiela, Tamires Silva Alves, M. Scherer, Paula Pereira, Bruno Rutkoski Dorr, Francini Petrolli, Franciele dos Santos Maciel, Gladis Reyes-Pimentel, S. K. Kostyk, Jay P. Singh, Christine M. Martinez, Wladimir Bocca Vieira de Rezende Pinto, P. Serrano, Ricardo Evangelista Marrocos de Aragão, Pedro Braga-Neto, Manoel Alves Sobreira Neto   +43 more
semanticscholar   +1 more source

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, Abdul Haseeb Wani, Muiez Bashir, Tariq A Gojwari   +3 more
doaj   +1 more source

Pathophysiology of cerebrotendinous xanthomatosis

Rinsho Shinkeigaku, 2016
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal-recessive lipid storage disease caused by mutations in the CYP27A1 gene, which lead to deficiency of the mitochondrial enzyme, sterol 27-hydroxylase, resulting in the accumulation of cholestanol in the serum and many affected lesions.
Shingo, Koyama, Takeo, Kato
openaire   +3 more sources

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, Jayashree Kharge, Vittal Bagi, Rangaraj Ramalingam   +3 more
doaj   +1 more source

Familial variability of cerebrotendinous xanthomatosis lacking typical biochemical findings

JIMD Reports, 2021
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder of bile acid synthesis caused by pathogenic variants in the CYP27A1 gene encoding the mitochondrial enzyme sterol 27‐hydroxylase.
Adam J. Guenzel, Andrea DeBarber, Kimiyo Raymond, Radhika Dhamija   +3 more
doaj   +1 more source

Spinal cerebrotendinous xanthomatosis: A case report and literature review

Molecular Genetics and Metabolism Reports, 2021
Background: Classic cerebrotendinous xanthomatosis (CTX; OMIM #213700) manifests with chronic diarrhea, juvenile cataracts, tendon xanthomas and neurological symptoms.
Isis Atallah, Diego San Millán, Wicki Benoît, Belinda Campos-Xavier, Andrea Superti-Furga, Christel Tran   +5 more
doaj   +1 more source

Clinical features and genetic analysis of a Brazilian patient with sitosterolemia: a case report [PDF]

Archives of Endocrinology and Metabolism
Sitosterolemia 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, Leticia Ferreira Gontijo Silveira, Rodrigo Rezende Arantes, Milena Maria Moreira Guimarães   +3 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

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

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