Ontology highlight
ABSTRACT:
INSTRUMENT(S): Orbitrap Fusion
ORGANISM(S): Homo Sapiens (human)
TISSUE(S): Blood Platelet, Platelet, Blood Cell
DISEASE(S): Thrombocytopenia,Sitosterolemia
SUBMITTER: Jessica Del Castillo
LAB HEAD: Sander Meijer
PROVIDER: PXD041248 | Pride | 2024-06-16
REPOSITORIES: pride
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11_21PS02_Family1_2011_3_A.raw | Raw | |||
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Blood advances 20240501 10
<h4>Abstract</h4>Sitosterolemia is a rare autosomal recessive genetic disorder in which patients develop hypercholesterolemia and may exhibit abnormal hematologic and/or liver test results. In this disease, dysfunction of either ABCG5 or ABCG8 results in the intestinal hyperabsorption of all sterols, including cholesterol and, more specifically, plant sterols or xenosterols, as well as in the impaired ability to excrete xenosterols into the bile. It remains unknown how and why some patients deve ...[more]