Results 81 to 90 of about 7,684 (214)
High levels of plant sterols and cholesterol precursors in cerebrotendinous xanthomatosis.
Journal of Lipid Research, 1991 We measured the cholestanol, cholesterol precursor (lathosterol), and plant sterol (campesterol and sitosterol) concentrations of serum and bile in 11 patients with cerebrotendinous xanthomatosis.
M Kuriyama +3 more
doaj +1 more source
Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.ABSTRACT Liver transplantation (LTx) has become, over the years, an increasingly used therapeutic option in patients with inherited metabolic diseases (IMD). Initially performed for Tyrosinemia Type I and ornithine transcarbamylase deficiency, it now accounts as the second indication for pediatric transplants worldwide. The use of LTx has been extended
Andrea Pietrobattista +3 more
wiley +1 more source
Natural history of neurological abnormalities in cerebrotendinous xanthomatosis
Journal of Inherited Metabolic Disease, 2018 ObjectivesCerebrotendinous xanthomatosis (CTX) is a rare inherited neurodegenerative disorder in bile acid synthesis. The natural history of neurological abnormalities in CTX is not well understood.
J. Wong +3 more
semanticscholar +1 more source
Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.ABSTRACT Movement disorders are common in inherited metabolic diseases (IMDs) and significantly impact quality of life. Unfortunately, they are often underrecognised by metabolic physicians. This study investigated whether a new screening tool improves recognition of movement disorders in IMD patients by non‐neurologists.
Ellen M. Hulshof +22 more
wiley +1 more source
Case Report: Cerebrotendinous xanthomatosis
Indian Journal of Radiology and Imaging, 2009 Cerebrotendinous xanthomatosis is a rare genetic disorder. We present and discuss the clinical, radiological, and histopathologic findings in a 36-year-old woman who had juvenile cataract, childhood diarrhea, mental retardation, cerebellar ataxia, and ...
Karandikar Amit +3 more
doaj +3 more sources
Xanthoma Disseminatum with Tumor-Like Lesion on Face
Case Reports in Dermatological Medicine, 2014 Xanthoma disseminatum (XD) is a rare benign mucocutaneous xanthomatosis that is classified as a benign non-Langerhans cell histiocytosis. We report a 62-year-old man who presented with widespread yellow-brown papulonodular and tumoral lesions on face ...
Habib Ansarin +3 more
doaj +1 more source
Cerebrotendinous Xanthomatosis In A Family
Indian Journal of Dermatology, 1999 A family consisting of a brother (11 years) and his twin sisters (13 years) with cerebrotendinous xanthomatosis is presented. The brother had bilateral achilles tendon xanthoma, low intelligence, poor memory with early cerebellar signs.
Chatterjee Gobinda +3 more
doaj
Alagille Syndrome: Resolution of Xanthomas
Canadian Journal of Gastroenterology, 1995 Alagille syndrome is a rare autosomal dominant disorder characterized by chronic cholestasis due to paucity of intrahepatic biliary ducts, characteristic facies, peripheral pulmonary stenosis, ocular posterior embryotoxon and skeletal abnormalities. Very
NJ Leonard, V Dias, HG Parsons
doaj +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 +3 more
doaj +1 more source
Journal of Lipid Research, 2018 Cerebrotendinous xanthomatosis (CTX) is a progressive metabolic leukodystrophy. Early identification and treatment from birth onward effectively provides a functional cure, but diagnosis is often delayed.
Andrea E DeBarber +10 more
semanticscholar +1 more source