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Compound heterozygous variants in the ABCG5 gene in a Korean boy with sitosterolemia
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참고문헌 (10)
- Tada H, "Diagnosis and Management of Sitosterolemia 2021", J Atheroscler Thromb, 28, pp.791~801 (2021)
- Yoo EG, "Sitosterolemia : a review and update of pathophysiology, clinical spectrum, diagnosis, and management", Ann Pediatr Endocrinol Metab, 21, pp.7~14 (2016)
- Lim JS, "2017 Clinical practice guidelines for dyslipidemia of Korean children and adolescents", Ann Pediatr Endocrinol Metab, 25, pp.199~207 (2020)
- Richards S, "Standards and guidelines for the interpretation of sequence variants : a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology", Genet Med, 17, pp.405~424 (2015)
- Tada H, "Clinical and genetic features of sitosterolemia in Japan", Clin Chim Acta, 530, pp.39~44 (2022)
- Keller S, "Increased plasma plant sterol concentrations and a heterozygous amino acid exchange in ATP binding cassette transporter ABCG5 : a case report", Eur J Med Genet, 54, pp.e458~e460 (2011)
- Mekchay P, "Whole exome sequencing for diagnosis of hereditary thrombocytopenia", Medicine(Baltimore), 99, pp.e23275~ (2020)
- Xu L, "Features of Sitosterolemia in Children", Am J Cardiol, 125, pp.1312~1316 (2020)
- Lee JH, "High prevalence of increased sitosterol levels in hypercholesterolemic children suggest underestimation of sitosterolemia incidence", PLoS One, 15, pp.e0238079~ (2020)
- Park JH, "Sitosterolemia presenting with severe hypercholesterolemia and intertriginous xanthomas in a breastfed infant : case report and brief review", J Clin Endocrinol Metab, 99, pp.1512~1518 (2014)
관련 논문AI추천
Putative Pathogenic Variants of ABCG5 and ABCG8 of Sitosterolemia in Patients With Hyper-Low-Density Lipoprotein CholesterolemiaAkihiro Inazu, Akihiro Nomura, Atsushi Nohara, Kenji Sakata, Kenshi Hayashi, Masa-aki Kawashiri, Masayuki Takamura, Nobuko Kojima, Soichiro Usui, Tada Hayato한국지질동맥경화학회 · 지질·동맥경화학회지2024 · 제13권 제1호The First Korean Family With Boucher-Neuhäuser Syndrome Carrying a Novel Mutation in PNPLA6김상진, 김윤중, 서고훈, 오승환, 유은경, 정우영, 정은주대한신경과학회 · Journal of Clinical Neurology2022 · 제18권 제2호Identification of Compound Heterozygous Mutations in the BBS7 Gene in a Korean Family with Bardet-Biedl Syndrome권아림, 김명신, 김성준, 김용구, 신석준, 윤혜은, 이승옥, 채효진, 제갈동욱대한진단검사의학회 · Annals of Laboratory Medicine2015 · 제35권 제1호A novel compound heterozygous variant of the COL11A1 gene in a patient with fibrochondrogenesis type I: the first case in Korea김유미, 전종근, Jeon Jaesung, Kim Minji, Yoo Sukdong대한소아내분비학회 · Annals of Pediatric Endocrinology & Metabolism2024 · 제29권 제2호Duarte Variant/Classical Galactosemia (D/G) Heterozygote 환아에서 Galactose-1-Phosphate Uridyltransferase (GALT) Gene에 대한 유전자 분석 1례양혜란대한소아소화기영양학회 · Pediatric Gastroenterology, Hepatology & Nutrition2003 · 제6권 제1호Novel ATP8B1 Gene Mutations in a Child with Progressive Familial Intrahepatic Cholestasis Type 1Beom Hee Lee, Eun Sang Rhee, Han-Wook Yoo, Kyung Mo Kim, Seak Hee Oh, Sunghee Lee, Yu Bin Kim대한소아소화기영양학회 · Pediatric Gastroenterology, Hepatology & Nutrition2019 · 제22권 제5호
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