Results 11 to 20 of about 7,425 (220)

Safety and Effectiveness of Pharmacy Compounded Chenodeoxycholic Acid Capsules for Patients With Cerebrotendinous Xanthomatosis. [PDF]

J Inherit Metab Dis
ABSTRACT 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, Majait S, Polak Y, de Jong A, Jacobs BAW, Vaz FM, Leen WG, Kemper EM, Swart EL, Hollak CEM.   +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 Rep
ABSTRACT 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 Rep
Abstract 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

Information Theory Analysis of CTX Shows Consistent Clinical Presentation. [PDF]

J Inherit Metab Dis
ABSTRACT Cerebrotendinous xanthomatosis (CTX) is a rare, metabolic disorder caused by pathogenic variants in CYP27A1. The classic clinical presentation includes infantile‐onset chronic diarrhea, juvenile‐onset bilateral cataracts, with development of tendon xanthomas and progressive neurological dysfunction.
Hanson J, Bonnen PE.
europepmc   +2 more sources

Achilles swelling and ataxia in an adolescent: A case report of cerebrotendinous xanthomatosis

Radiology Case Reports, 2022
Cerebrotendinous xanthomatosis (CTX) is a rare hereditary disease characterized by a bile acid metabolic problem that causes cholesterol metabolites to accumulate in various organs. There are 2 types of CTX: traditional and spinal.
Hind Sahli, MD, Jihane El. Mandour, MD, Jihad Boularab, MD, Issam En-nafaa, PhD,MD, Jamal El. Fenni, PhD,MD, Aziz Hommadi, PhD,MD   +5 more
doaj   +1 more source

Egy ritka, veleszületett neurodegeneratív betegség: a cerebrotendinosus xanthomatosis laboratóriumi diagnosztikája [PDF]

, 2014
Cerebrotendinous xanthomatosis is a rare neurodegenerative disease characterized by the accumulation of cholesterol and cholestanol in the brain and the tendons caused by mutations of the gene encoding sterol 27-hydroxylase (CYP27A1), which is involved ...
Balogh István, Harangi János, Harangi Mariann, Kapás István, Katkó Mónika, Kovács G. Gábor, Madar László, Molnár Mária Judit, Paragh György, Seres Ildikó, Varga Viktória Evelin   +10 more
core   +1 more source

An unusual Erdheim–Chester disease with bilateral orbital involvement and diabetes insipidus: a case report

Delta Journal of Ophthalmology, 2018
Case report A 39-year-old man presented with proptosis, disk edema, and extraocular muscle restrictions. He was suspected of having systemic lymphoma and had already been submitted to retroperitoneal biopsy; however, the diagnosis was still uncertain ...
Mohamed A.I Eldesouky
doaj   +1 more source

Skin manifestations of secondary dyslipidemia: a case report

Российский кардиологический журнал, 2022
In the presented case report, 27-year-old female patient consulted a dermatologist and a lipidologist due to the appearance of small red spots on the skin. At the stage of examination in the lipid center, the patient was diagnosed with diabetes.
Z. F. Kim, A. S. Galyavich, I. M. Nurieva, N. I. Bayazova   +3 more
doaj   +1 more source

Diffuse plane xanthomas as the first manifestation of multiple myeloma. [PDF]

J Dtsch Dermatol Ges
JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 23, Issue 11, Page 1451-1453, November 2025.
Koutra E, Lusmöller E, Ghanem H, Aumann A, Atzpodien J, Stadler R.   +5 more
europepmc   +2 more sources

Radiotherapy in langerhans cell histiocytosis : a rare indication in a rare disease [PDF]

, 2013
Introduction: Langerhans Cell Histiocytosis (LCH) represents a rare benign disorder, previously designated as "Histiocytosis X", "Type II Histiocytosis" or "Langerhans Cell Granulomatosis".
Bruns, Frank, Büntzel, Jens, Eich, Hans Theodor, Haverkamp, Uwe, Heyd, Reinhard, Kriz, Jan, Micke, Oliver, Schäfer, Ulrich, Seegenschmiedt, Heinrich   +8 more
core   +3 more sources