家族性低脂蛋白血症病例报告:一种新型 APOB 基因突变和文献综述。

IF 2.8 Q3 ENDOCRINOLOGY & METABOLISM Annals of Pediatric Endocrinology & Metabolism Pub Date : 2023-12-01 Epub Date: 2023-02-03 DOI:10.6065/apem.2244180.090
So Yun Park, Heung Sik Kim, Mi Ae Chu, Hyo-Jeong Jang, Seokjin Kang
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引用次数: 0

摘要

家族性低脂蛋白血症是一种常染色体显性遗传的脂质代谢疾病,其特征是APOB基因中的T),在以往的研究中未见报道,在其脂质谱正常的父母中未检测到。限制饱和脂肪的摄入,增加体力活动,并补充维生素E。随后的实验室检查显示转氨酶水平正常。
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Case report of familial hypobetalipoproteinemia: a novel APOB mutation and literature review.
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来源期刊
CiteScore
4.00
自引率
18.20%
发文量
59
审稿时长
24 weeks
期刊介绍: The Annals of Pediatric Endocrinology & Metabolism Journal is the official publication of the Korean Society of Pediatric Endocrinology. Its formal abbreviated title is “Ann Pediatr Endocrinol Metab”. It is a peer-reviewed open access journal of medicine published in English. The journal was launched in 1996 under the title of ‘Journal of Korean Society of Pediatric Endocrinology’ until 2011 (pISSN 1226-2242). Since 2012, the title is now changed to ‘Annals of Pediatric Endocrinology & Metabolism’. The Journal is published four times per year on the last day of March, June, September, and December. It is widely distributed for free to members of the Korean Society of Pediatric Endocrinology, medical schools, libraries, and academic institutions. The journal is indexed/tracked/covered by web sites of PubMed Central, PubMed, Emerging Sources Citation Index (ESCI), Scopus, EBSCO, EMBASE, KoreaMed, KoMCI, KCI, Science Central, DOI/CrossRef, Directory of Open Access Journals(DOAJ), and Google Scholar. The aims of Annals of Pediatric Endocrinology & Metabolism are to contribute to the advancements in the fields of pediatric endocrinology & metabolism through the scientific reviews and interchange of all of pediatric endocrinology and metabolism. It aims to reflect the latest clinical, translational, and basic research trends from worldwide valuable achievements. In addition, genome research, epidemiology, public education and clinical practice guidelines in each country are welcomed for publication. The Journal particularly focuses on research conducted with Asian-Pacific children whose genetic and environmental backgrounds are different from those of the Western. Area of specific interest include the following : Growth, puberty, glucose metabolism including diabetes mellitus, obesity, nutrition, disorders of sexual development, pituitary, thyroid, parathyroid, adrenal cortex, bone or other endocrine and metabolic disorders from infancy through adolescence.
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