Results 81 to 90 of about 7,425 (220)
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
Exceptionally elevated triglyceride in severe lipemia retinalis [PDF]
, 2016 PURPOSE: To report a case of successful treatment for severe lipemia retinalis with extreme severe hypertriglyceridemia (sHTG). DESIGN: Observational case report.
Cheng, Anny M.S. +3 more
core +1 more source
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, Volume 199, Issue 3, Page 189-193, September 2025.ABSTRACT Rare diseases collectively affect millions of Americans, but less than 5% have approved treatments, and new drug development remains limited. For such diseases, drug repurposing may be an effective strategy to find new treatment options. In the rare genetic disorder community, drugs are frequently prescribed off‐label.
Tahsin Farid +11 more
wiley +1 more source
Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies
Annals of Neurology, Volume 98, Issue 3, Page 448-470, September 2025.[Color figure can be viewed at www.annalsofneurology.org] Autosomal recessive cerebellar ataxias are disabling neurodegenerative genetic conditions affecting balance and coordination. Advancements in genomic testing have improved diagnosis, leading to a new focus on the development of targeted precision therapeutics addressing cellular, biochemical ...
Brent L. Fogel +10 more
wiley +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
Self-induced water intoxication : a case report [PDF]
, 1988 CITATION: Emsley, R. A. & Taljaard, J. J. F. 1988. Self-induced water intoxication : a case report. South African Medical Journal, 74:80-81.The original publication is available at http://www.samj.org.zaA 19-year-old female schizophrenic with self ...
Emsley, R. A., Taljaard, J. J. F.
core
Clinical and genetic characteristics of Chinese patients with cerebrotendinous xanthomatosis
Orphanet Journal of Rare Diseases, 2019 Background Cerebrotendinous xanthomatosis (CTX) is a rare inborn lipid-storage disease caused by mutations in the sterol 27-hydroxylase (CYP27A1) gene with an autosomal recessive pattern of inheritance. To date, only 19 CTX patients from 16 families have
Qing-Qing Tao +5 more
doaj +1 more source