Cerebrotendinous xanthomatosis (a rare lipid storage disorder): a case report [PDF]
core +1 more source
Eruptive xanthomas and acute pancreatitis in a patient with hypertriglyceridemia [PDF]
Desirée Martínez +2 more
core +1 more source
Study of rare familial monogenic dyslipidemias [PDF]
A dislipidemia é um distúrbio do perfil lipídico, seja por elevação ou diminuição de partículas lipídicas. O objetivo deste trabalho é fazer uma revisão dos casos com dislipidemia rara em estudo no Instituto Nacional de Saúde Doutor Ricardo Jorge ...
Alves, Ana Catarina +8 more
core
Cerebrotendinous xanthomatosis: A case report
Zhiyong Xiao +3 more
doaj +1 more source
Considerations Regarding the Family Members in the Management of Patients with Familiar Hypercholesterolemia. [PDF]
Kotani K.
europepmc +1 more source
Neurodegeneratív proteinopátiák klinikopatológiai elemzése [PDF]
Kapás, István
core +1 more source
Genomic Confluence: When Cerebrotendinous Xanthomatosis, Klinefelter Syndrome, and a BRCA2 Variant Intersect. [PDF]
Pachajoa H, Bonilla S, Nieva-Posso DA.
europepmc +1 more source
Vitiligo-associated jejunal xanthomatosis leading to small bowel obstruction. [PDF]
Jha R +5 more
europepmc +1 more source
Plasma sterol profiling in autism spectrum disorder: insights from cerebrotendinous xanthomatosis screening and beyond. [PDF]
Calisgan K +13 more
europepmc +1 more source

