Results 1 to 10 of about 1,251 (119)
Sitosterolemia due to compound heterozygous mutations in ABCG5: a case report [PDF]
Journal of Medical Case ReportsBackground Sitosterolemia is an autosomal recessive genetic disorder characterized by hypercholesterolemia and tendon/hip xanthomas, primarily caused by pathogenic mutations in the ABCG5 or ABCG8 gene.
Li-Li Wu +7 more
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Pediatric patients with familially inherited sitosterolemia: Two case reports [PDF]
Frontiers in Cardiovascular Medicine, 2022 BackgroundSitosterolemia is a rare recessive genetic abnormality of hyperlipidemia; it is characterized by increased levels and accumulation of sitosterol in the plasma and local tissues.Case descriptionsThe study subjects were two siblings (brother and ...
Shun-Qing Su +4 more
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Features of chinese patients with sitosterolemia [PDF]
Lipids in Health and Disease, 2022 Background Sitosterolemia is a lipid disorder characterized by the accumulation of phytosterols in plasma and organs, caused by mutations in the ABCG5 and/or ABCG8 genes.
Zhizi Zhou +10 more
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Sitosterolemia: A Case Report and a Concise Literature Review [PDF]
Case Reports in Endocrinology, 2023 Background. Sitosterolemia is a relatively rare metabolism lipid disorder, with about 110 cases worldwide and only a few known cases from the Middle East. Sitosterolemia is characterized by excessive uptake of phytosterols and their deposition in various
Moeber M. Mahzari
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Sitosterolemia—10 years observation in two sisters [PDF]
JIMD Reports, 2019 Familial hypercholesterolemia due to heterozygous low‐density lipoprotein‐receptor mutations is a common inborn errors of metabolism. Secondary hypercholesterolemia due to a defect in phytosterol metabolism is far less common and may escape diagnosis ...
Lara Veit +4 more
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A mouse model of sitosterolemia: absence of Abcg8/sterolin-2 results in failure to secrete biliary cholesterol [PDF]
BMC Medicine, 2004 Background Mutations in either of two genes comprising the STSL locus, ATP-binding cassette (ABC)-transporters ABCG5 (encoding sterolin-1) and ABCG8 (encoding sterolin-2), result in sitosterolemia, a rare autosomal recessive disorder of sterol ...
Oude-Elferink Ronald +16 more
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From Bernard-Soulier syndrome to sitosterolemia: the role of genetic analysis in bleeding diathesis [PDF]
Thrombosis JournalBleeding diathesis’ diagnosis can be challenging due to the high number of disorders with hemorrhagic symptomatology. Sitosterolemia is a rare disease characterized by increased sterols plasma levels and cardiovascular, cutaneous, articular, and ...
Cristina Marrero-Cepeda +6 more
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Gene variants and clinical characteristics of children with sitosterolemia [PDF]
Lipids in Health and DiseaseObjective To enhance the detection, management and monitoring of Chinese children afflicted with sitosterolemia by examining the physical characteristics and genetic makeup of pediatric patients.
Rui Gu +10 more
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Reassessing very long chain fatty acids elevations: Sitosterolemia as a non-peroxisomal cause [PDF]
Molecular Genetics and Metabolism ReportsVery-long-chain fatty acids (VLCFAs) are commonly used to diagnose peroxisomal disorders, but elevated levels may also result from other non-peroxisomal causes, leading to diagnostic challenges.
Merve Yoldaş Çelik +3 more
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Clinical, Cosmetic and Investigational DermatologyYu Deng,* Henghong Wang,* Dongju Tang,* Chang-En Peng* Department of Dermatology, Chengdu Pidu District Hospital of Traditional Chinese Medicine, Chengdu, Sichuan, People’s Republic of China*These authors ...
Deng Y, Wang H, Tang D, Peng CE
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