지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2017.7
- 수록면
- 355 - 358 (4page)
이용수
초록· 키워드
오류제보하기
Dear Editor, Lipoprotein lipase (LPL) deficiency is a rare disease characterized by severe hypertriglyceridemia due to mutations in the LPL gene. It shows an autosomal recessive inheritance pattern and has a general prevalence of 1:1,000,000 [1]. Patients typically present abdominal pain, hemorrhage, failure to thrive, jaundice, eruptive xanthomas, lipemia retinalis, neurological complications, hepatosplenomegaly, and life-threatening pancreatitis [2]. The LPL gene is located on chromosomal band 8p22, contains 10 exons, and codes for a 475-amino acid protein that is active only in its dimeric form. The LPL protein has two functions in lipid metabolism: it hydrolyzes triglycerides and functions as a ligand [3]. The aim of this work is to describe the biochemical, clinical, and molecular features of a Mexican girl with LPL deficiency.
목차
등록된 정보가 없습니다.
참고문헌 (10)
참고문헌 신청
Kolářová H / 2014 / Lipoprotein lipase deficiency: clinical, biochemical and molecular characteristics in three patients with novel mutations in the LPL gene / Folia Biol (Praha) 60:235~243
Rahalkar AR / 2009 / Novel LPL mutations associated with lipoprotein lipase deficiency: two case reports and a literature review / Can J Physiol Pharmacol 87:151~160
Ooi EM / 2012 / Apolipoprotein B-100-containing lipoprotein metabolism in sub-jects with lipoprotein lipase gene mutations / Arterioscler Thromb Vasc Biol 32:459~466
Gilbert B / 2001 / Lipoprotein lipase (LPL) deficiency: a new patient homozygote for the preponderant mutation Gly188Glu in the human LPL gene and review of reported mutations: 75% are clustered in exons 5 and 6 / Ann Genet 44:25~32
The 1000 genomes browser
Rahalkar AR / 2009 / Novel LPL mutations associated with lipoprotein lipase deficiency: two case reports and a literature review / Can J Physiol Pharmacol 87:151~160
Ooi EM / 2012 / Apolipoprotein B-100-containing lipoprotein metabolism in sub-jects with lipoprotein lipase gene mutations / Arterioscler Thromb Vasc Biol 32:459~466
Gilbert B / 2001 / Lipoprotein lipase (LPL) deficiency: a new patient homozygote for the preponderant mutation Gly188Glu in the human LPL gene and review of reported mutations: 75% are clustered in exons 5 and 6 / Ann Genet 44:25~32
The 1000 genomes browser
함께 읽어보면 좋을 논문
논문 유사도에 따라 DBpia 가 추천하는 논문입니다. 함께 보면 좋을 연관 논문을 확인해보세요!
-
Clinical features and survival outcomes of patients with lymphoplasmacytic lymphoma, including non-IgM type, in Korea: a single-center experience
Blood Research
2018 .01
-
Lipoprotein Lipase: Is It a Magic Target for the Treatment of Hypertriglyceridemia
Endocrinology and Metabolism
2022 .08
-
MicroRNA-138 Suppresses Adipogenic Differentiation in Human Adipose Tissue-Derived Mesenchymal Stem Cells by Targeting Lipoprotein Lipase
Yonsei Medical Journal
2019 .01
-
Associations of the PPARα and Lipoprotein Lipase Enzyme Gene Polymorphisms with Dyslipidemia in Obese and Non-obese Males
Journal of Obesity & Metabolic Syndrome
2024 .09
-
Expression Levels of GABA-A Receptor Subunit Alpha 3, Gabra3 and Lipoprotein Lipase, Lpl Are Associated with the Susceptibility to Acetaminophen-Induced Hepatotoxicity
Biomolecules & Therapeutics(구 응용약물학회지)
2017 .01
-
Triglyceride-Rich Lipoproteins and Novel Targets for Anti-atherosclerotic Therapy
Korean Circulation Journal
2018 .01
-
Eruptive Xanthoma with Acute Pancreatitis in a Patient with Hypertriglyceridemia and Diabetes
Annals of Dermatology
2016 .01
-
IgM-κ 및 IgA-λ 이중클론감마병증을 가진 림프형질세포림프종/발덴스트롬마크로글로불린혈증 1례
Laboratory Medicine Online
2019 .01
-
Six-year follow-up of a child with familial chylomicronemia syndrome: disease course and effectiveness of gemfibrozil treatment --case report and literature review
Annals of Pediatirc Endocrinology & Metabolism
2024 .04
-
Prevalence of CYP17A1 gene mutations in 17α-hydroxylase deficiency in the Chinese Han population
Clinical Hypertension
2020 .01
-
Congenital hypothyroidism due to thyroglobulin deficiency: a case report with a novel mutation in TG gene
Annals of Pediatirc Endocrinology & Metabolism
2019 .01
-
Detection of MYD88 L265P in patients with lymphoplasmacytic lymphoma/Waldenstrom macroglobulinemia and other B-cell non-Hodgkin lymphomas
Blood Research
2016 .01
-
A Novel Homozygous LIPA Mutation in a Korean Child with Lysosomal Acid Lipase Deficiency
Pediatric Gastroenterology, Hepatology & Nutrition
2017 .01
-
Mechanism, clinical consequences, and management of dyslipidemia in children with nephrotic syndrome
Childhood Kidney Diseases
2022 .06
-
Mineral deficiencies
대한외과학회 학술대회 초록집
2016 .11
-
Hypertriglyceridemia and Cardiovascular Diseases: Revisited
Korean Circulation Journal
2016 .01
-
Mining of mortality-related findings in rare bleeding disorders: a retrospective study from two centers
Blood Research
2020 .01
-
The Association of Acquired T790M Mutation with Clinical Characteristics after Resistance to First-Line Epidermal Growth Factor Receptor Tyrosine Kinase Inhibitor in Lung Adenocarcinoma
Cancer Research and Treatment
2018 .01
-
A POLG2 Homozygous Mutation in an Autosomal Recessive Epilepsy Family Without Ophthalmoplegia
Journal of Clinical Neurology
2019 .01
-
Laparoscopic Posterolateral Rectopexy for the Treatment of Patients With a Full Thickness Rectal Prolapse: Experience With 63 Patients and Short-term Outcomes
Annals of Coloproctology
2018 .01
이 논문의 저자 정보
최근 본 자료
댓글(0)
0