Sitosterolemia With Two Heterozygous Variants Including a Novel Mutation c.1800T>A in the ABCG5 Gene: A Case Report of a Rare Condition in a Young Saudi Girl. [PDF]
CureusAlquraishi AS, Rayees S.
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Non-Responder to Inclisiran and Evolocumab-A Female Patient with Heterozygous Familial Hypercholesterolemia and Statin Intolerance. [PDF]
DiseasesMuszyński P +7 more
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Plasma sterol profiling in autism spectrum disorder: insights from cerebrotendinous xanthomatosis screening and beyond. [PDF]
Metab Brain DisCalisgan K +13 more
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Cerebrotendinous Xanthomatosis: A Reversible Rarity if Caught on Time. [PDF]
Indian Dermatol Online JSuresh P, Dev PP, Khunger N, Sharma S.
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Sitosterolemia and platelet abnormality
Japanese Journal of Thrombosis and Hemostasis, 2017 openaire +2 more sources
Expanded genetic testing in familial hypercholesterolemia-A single center's experience. [PDF]
Am J Prev CardiolBrown EE +7 more
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Crystalline retinopathy in a child with hyperoxaluria type 1: Ultrawide field imaging before and after treatment. [PDF]
Am J Ophthalmol Case RepBorella Y +3 more
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Genome-wide association study and meta-analysis of phytosterols identifies a novel locus for serum levels of campesterol. [PDF]
Hum GenomicsAlenbawi J +6 more
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Bleeding Disorders in Children With Genetic Diseases: A Narrative Review. [PDF]
Acta PaediatrCagol R +6 more
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Genetic Counseling and Genetic Testing for Familial Hypercholesterolemia. [PDF]
Genes (Basel)Tada H +5 more
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