Results 161 to 170 of about 7,351 (200)

Sitosterolemia with Compound Heterozygous Variants in the <i>ABCG5</i> Gene: A Rare Cause of Non-Immune Hemolysis and Macrothrombocytopenia [PDF]

Turk J Haematol
Bostankolu Değirmenci B, Polat H.
europepmc   +1 more source

Polyneuropathy in Cerebrotendinous Xanthomatosis: Diagnostic Challenges and Potential for Therapeutic Intervention. [PDF]

Brain Sci
Camelo-Filho AE, Lima PLGSB, Cavalcante FLHB, Miyajima OR, Santos CF, da Rosa RF, Pessoa ALS, Braga-Neto P, Nóbrega PR.   +8 more
europepmc   +1 more source

A double CYP27A1 gene mutation in spinal cerebrotendinous xanthomatosis in a patient presenting with spastic gait: a case report. [PDF]

J Med Case Rep
Min JH, Kim YS, Son MJ, Joo IS.
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Eruptive xanthomas in a patient with severe hypertriglyceridemia: A case report. [PDF]

World J Clin Cases
Ren C, Zhu L, Niu YC, Tu LY, Jin ZF, Zhang J.   +5 more
europepmc   +1 more source

Molecular dynamics, docking and quantum calculations reveal conformational changes influenced by CYP271A amino acid mutations related to cerebrotendinous xanthomatosis. [PDF]

Sci Rep
Sixto-López Y, Mendoza-Figueroa HL, Landeros-Rivera B, Camacho-Molina A, Correa-Basurto J.   +4 more
europepmc   +1 more source

[XANTHOMATOSIS].

Actas dermo-sifiliograficas, 1996
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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
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Cerebrotendinous xanthomatosis

Current Opinion in Lipidology, 1994
Cerebrotendinous xanthomatosis is an autosomal recessive lipid-storage disease caused by mutations in the sterol 27-hydroxylase (CYP27) gene. Recent cloning and characterization of CYP27 enables further analysis and understanding of the pathophysiology of this multisystem disease.
E, Leitersdorf, V, Meiner
openaire   +2 more sources