Results 11 to 20 of about 4,802 (174)
Nerve Ultrasound Detects Peripheral Nerve Enlargement in Cerebrotendinous Xanthomatosis. [PDF]
Muscle NerveABSTRACT Introduction/Aims Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder caused by variants in the CYP27A1 gene, resulting in cholestanol accumulation in various tissues, including peripheral nerves. Polyneuropathy is common but often under‐recognized in CTX.
Camelo-Filho AE +8 more
europepmc +2 more sources
Cerebrotendinous xanthomatosis
Indian Dermatology Online Journal, 2016 Mahalakshmi Muniaswamy +3 more
doaj +3 more sources
Safety and Effectiveness of Pharmacy Compounded Chenodeoxycholic Acid Capsules for Patients With Cerebrotendinous Xanthomatosis. [PDF]
J Inherit Metab DisABSTRACT Chenodeoxycholic acid (CDCA) is an essential drug for patients with rare metabolic disease cerebrotendinous xanthomatosis (CTX). To ensure continuation of treatment, the Amsterdam UMC hospital pharmacy developed pharmacy compounded CDCA capsules when the authorized CDCA capsules were no longer available for Dutch patients.
Bouwhuis N +9 more
europepmc +2 more sources
FDA Approves First Targeted Treatment for Cerebrotendinous Xanthomatosis: A Perspective on a Landmark in Rare Lipid Storage Disease Therapy. [PDF]
Health Sci RepABSTRACT Background and Aims Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder caused by mutations in the CYP27A1 gene, leading to deficient sterol 27‐hydroxylase activity. This enzyme is critical for bile acid synthesis, and its dysfunction results in reduced chenodeoxycholic acid (CDCA) levels and subsequent accumulation of ...
Jalal L, Basaria AAA, Yokolo H.
europepmc +2 more sources
Maralixibat for the treatment of severe xanthomas in two children with Alagille syndrome: Case reports. [PDF]
JPGN RepAbstract Alagille syndrome (ALGS) is a rare, autosomal dominant disorder which presents with a broad range of clinical manifestations, including cholestatic pruritus. A unique manifestation of ALGS is the presence of xanthomas in 24%–42% of patients, which can lead to liver transplantation.
Bora G, Quiros-Tejeira RE, Vitola B.
europepmc +2 more sources
Spinal xanthomatosis: a variant of cerebrotendinous xanthomatosis [PDF]
Brain, 1999 We describe seven Dutch patients from six families with a slowly progressive, mainly spinal cord syndrome that remained for many years the sole expression of cerebrotendinous xanthomatosis (CTX). MRI demonstrated white matter abnormalities in the lateral and dorsal columns of the spinal cord.
Verrips, A. +11 more
openaire +3 more sources
A Treatable Rare Cause of Progressive Ataxia and Palatal Tremor
Tremor and Other Hyperkinetic Movements, 2018 Background: Cerebrotendinous xanthomatosis is a rare autosomal recessive neurometabolic disorder characterized by chronic diarrhea, tendon xanthomas, juvenile cataracts, and neurological symptoms.
Malco Rossi +4 more
doaj +1 more source
Normolipemic xanthomatosis [PDF]
Postgraduate Medical Journal, 1995 Abstract A 20-year-old woman presented with tendon and tuberous xanthomas. Plasma lipid levels were normal. Xanthomatosis with normal lipid levels is rare.
R, Handa, K, Gupta, J P, Wali
openaire +2 more sources
Outcomes of Surgical Management of Xanthelasma Palpebrarum
Archives of Plastic Surgery, 2013 Background Xanthelasma palpebrarum (XP) is a benign disorder manifesting as yellowish cholesterol-laden plaques on the eyelids. This paper presents the outcomes in patients with XP who have undergone surgical excision as the main modality of treatment.
Hoon Young Lee +3 more
doaj +1 more source
An Unusual Case of Hand Xanthomatosis
Case Reports in Orthopedics, 2013 Tendon xanthomatosis often accompanies familial hypercholesterolaemia, but it can also occur in other pathologic states. Of the musculoskeletal system, the Achilles tendon is the most commonly effected tendon due to xanthomatosis.
Gazi Huri, Noah Joachim
doaj +1 more source