Results 161 to 170 of about 7,425 (220)

Diagnosing Cerebrotendinous Xanthomatosis in a Middle-Aged Woman With Cervical Dystonia. [PDF]

J Mov Disord
Wang WS, Chiu YP, Tsai MH, Wu SL, Chen YC.   +4 more
europepmc   +1 more source

Bilateral Tendoachilles Xanthoma in a Young Female: A Rare Case Report. [PDF]

J Orthop Case Rep
Kumar H, Seth A, Chaudhary M, Saini N.
europepmc   +1 more source

Juvenile Cataract and Chronic Diarrhea: A Single Etiology. [PDF]

Cureus
Risto MI, Sobrosa P, Vilela M, Sousa L.
europepmc   +1 more source

Xanthogranuloma disseminatum: Successfully treated with statins followed by upadacitinib. [PDF]

JAAD Case Rep
Okundia F, Bouchelkia I, Shakhashiro M, Doan HQ, Tyring S.   +4 more
europepmc   +1 more source

Early diagnosis and follow-up of cerebrotendinous xanthomatosis in infant siblings presenting with congenital diarrhea: A case study from Saudi Arabia. [PDF]

Mol Genet Metab Rep
Alsaleem BM, Ahmed AB, Alruwaithi MM, Alamery TY, Alrajhi NN.   +4 more
europepmc   +1 more source

Successful Resolution of Eruptive Xanthomas in Severe Hypertriglyceridemia With Plasmapheresis. [PDF]

Cureus
Petkevičius A, Cibulskaitė R, Janonytė U, Makštienė J, Žilaitienė B.   +4 more
europepmc   +1 more source

[XANTHOMATOSIS].

Actas dermo-sifiliograficas, 1996
openaire   +1 more source

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Cerebrotendinous Xanthomatosis

The Indian Journal of Pediatrics, 2010
We describe two adolescent Indian siblings with cerebrotendinous xanthomatosis with cognitive impairment, progressive neurological deterioration, juvenile cataracts and chronic diarrhea. Both patients had bilateral Achilles tendon xanthomata. Rapid progression of disease was an unusual finding in these cases.
T. Siman-Tov, N. Gadoth
openaire   +3 more sources

Cerebrotendinous Xanthomatosis

Neurologic Clinics, 1989
Cerebrotendinous xanthomatosis is a rare familial lipid storage that is caused by a defect in bile acid synthesis. As a result, large amounts of cholestanol, the 5 alpha-dihydro derivative of cholesterol, accumulate in virtually every tissue, with extra large deposits in the nervous system, xanthomas, and bile.
V M, Berginer, G, Salen, S, Shefer
openaire   +2 more sources