Results 121 to 130 of about 5,605 (209)
Cerebrotendinous xanthomatosis (a rare lipid storage disorder): a case report [PDF]
, 2016 core +1 more source
Haseki Tıp BülteniCerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive neurometabolic disease caused by a mutation in the CYP27A1 gene and deficiency of the mitochondrial 27-sterol hydroxylase enzyme.
Eser Bulus, Sahin Avci, F. Feriha Ozer
doaj +1 more source
Assessment of sterol metabolism in sitosterolemia [PDF]
, 2014 Sitosterolemia (STSL) is a sterol storage disorder characterized by very high plasma plant sterol (PS) and 5α-stanol levels, and leads to premature atherosclerosis, xanthomas, macrothrombocytopenia and endocrine disruption.
Othman, Rgia Ali
core +1 more source
Cerebrotendinous Xanthomatosis
Neurologia (Barcelona, Spain), 2008 FEDERICO, ANTONIO +2 more
+6 more sources
Xantomatosis cerebrotendinosa en España. Mutaciones, aspectos clínicos y terapéuticos [PDF]
, 2009 La presente serie es la única en nuestro país sobre esta enfermedad de la que tengamos constancia. La prevalencia encontrada en esta serie, sugiere que este trastorno posiblemente sea la heredoataxia recesiva más frecuente después de la enfermedad de ...
Pilo de la Fuente, Belén
core +2 more sources
Cerebrotendinous xanthomatosis: recurrence of the CYP27A1 mutation p.Arg479Cys in Sardinia [PDF]
, 2014 Alessia, Sapio +9 more
core +2 more sources
Cerebrotendinous xanthomatosis [PDF]
, 2020 Gerald Salen, Shailendra B. Patel
openaire +2 more sources
Neurodegeneratív proteinopátiák klinikopatológiai elemzése [PDF]
, 2017 Kapás, István
core +1 more source