Results 61 to 70 of about 7,684 (214)
Medicine Development and Access for Rare Diseases: Can We Do Better?
Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.ABSTRACT Recent advances in molecular biology and genomics have significantly enhanced our understanding of rare diseases. While enabling the development of highly targeted therapies, it also leads to complexity in the development, regulation, and accessibility of orphan medicines.
Carla E. M. Hollak +14 more
wiley +1 more source
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
Severe hypertriglyceridemia presenting as eruptive xanthomatosis
Journal of Family Medicine and Primary Care, 2018 Eruptive xanthomatosis is described as the sudden eruption of erythematous yellow papules in the presence of hypertriglyceridemia, often associated with serum triglyceride levels above 2000 mg/dl.
Sameera S Vangara +3 more
doaj +1 more source
Epidemiology of progressive intellectual and neurological deterioration in UK children
Developmental Medicine &Child Neurology, Volume 68, Issue 3, Page 418-428, March 2026.This study of PIND in UK children was carried out via the British Paediatric Surveillance Unit from 1997 to 2024. It identified six cases of vCJD. 2367 children had other diagnoses explain their deterioration. There were 259 other diseases in the diagnosed group.
Christopher M. Verity +3 more
wiley +1 more source
BJR|case reports, 2020 Cerebrotendinous xanthomatosis (CTX) is a rare metabolic disease with autosomal recessive inheritance. It is caused by mutations of the CYP27A1 gene, which codifies for sterol 27-hydroxylase, an enzyme that is responsible for the synthesis of cholic ...
Giuseppina Dell'Aversano Orabona +6 more
semanticscholar +1 more source
Homozygous familial hypercholesterolemia
Indian Journal of Endocrinology and Metabolism, 2012 Familial hypercholesterolema (FH) is an inherited autosomal dominant disorder of lipid metabolism. We report a 3 years old female child who presented with multiple eruptive xanthomatosis of skin since 6 months of age and had deranged lipid profile ...
Ravi Kumar Parihar +2 more
doaj +1 more source
Clinical Case Reports, Volume 14, Issue 2, February 2026.A 42‐year‐old man with persistent ESR elevation and peri‐ocular xanthomas was diagnosed with Erdheim–Chester disease via biopsy of the accessible cutaneous lesion, supported by characteristic “hairy kidney” imaging and symmetric skeletal uptake.
Mohammad Rahimi +4 more
wiley +1 more source
Parkinsonism with Normal Dopaminergic Presynaptic Terminals in Cerebrotendinous Xanthomatosis
Movement Disorders Clinical Practice, 2020 Cerebrotendinous xanthomatosis (CTX) is a treatable, autosomalrecessive, multisystemic lipid storage disorder with various neurological and nonneurological manifestations.
Jun Li +7 more
semanticscholar +1 more source
A Case Report of Xanthogranulomatous Cystitis
Urology Case Reports, 2017 Xanthogranulomatous cystitis (XC) is a chronic granulomatous inflammation with rare incidence. Herein, we report a 62-year-old female whose cystoscopic biopsy showed chronic inflammation accompanied with acute episode of inflammation.
Chen Pengliang +4 more
doaj +1 more source
Long-term treatment effect in cerebrotendinous xanthomatosis depends on age at treatment start
Neurology, 2018 Objective To evaluate the effect of chenodeoxycholic acid treatment on disease progression in cerebrotendinous xanthomatosis (CTX). Methods In this retrospective cohort study, we report the clinical long-term follow-up characteristics of 56 Dutch ...
B. Stelten +8 more
semanticscholar +1 more source