Results 71 to 80 of about 7,351 (200)
Cerebrotendinous xanthomatosis
Current Opinion in Lipidology, 2013 Cerebrotendinous xanthomatosis (CTX) is a rare neurological disease characterized by accumulation of cholesterol and cholestanol in brain and tendons caused by a mutation in the sterol 27-hydroxylase gene (CYP27A1). The mechanism behind the accumulation of cholestanol in the brain was recently clarified and a role of 27-hydroxycholesterol as a ...
openaire +5 more sources
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
Case of cerebrotendinous xanthomatosis with giant xanthomas and literature review
The Egyptian Journal of Neurology, Psychiatry and Neurosurgery, 2023 Introduction Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disease that occurs as result of mutation in the CYP27A1 gene. The clinical presentation of the disease is quite wide.
Sinan Eliaçık, Gülsüm Çil
doaj +1 more source
, 1977 Asymptomatic hyperlipemia occurs in a significant number of American children. It is important to recognize the condition during childhood because of its role as a risk factor in the early onset of coronary artery disease and because early dietary ...
Miller, William W.
core +1 more source
Hyperlipidemic myeloma: review of 53 cases [PDF]
, 2018 Hyperlipidemic myeloma is a rare and poorly understood variant of multiple myeloma. We report the case of a 53-year-old woman with hyperlipidemic myeloma, skin xanthomas and hyperviscosity syndrome who underwent allogeneic bone marrow transplantation.
Goede, Jeroen +4 more
core
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
Genetic analysis of indicators of cholesterol synthesis and absorption: Lathosterol and phytosterols in Dutch twins and their parents [PDF]
, 2003 Significant familial aggregation was observed for plasma levels of lathosterol (an indicator of whole-body cholesterol synthesis) and plant sterols campesterol and β-sitosterol (indicators of cholesterol absorption) in 160 Dutch families consisting of ...
Boomsma, D.I. +4 more
core +2 more sources
Journal of Inherited Metabolic Disease, Volume 48, Issue 5, September 2025.ABSTRACT Many inborn errors of metabolism affect pathways involved in the synthesis of a metabolite that has an important biochemical or physiological function, and adverse effects of the disorder can be attributed to the lack of this metabolite. Thus, there is the opportunity for treatment by ‘product replacement’. One of the disorders in the pathways
Peter T. Clayton +2 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