Genetic Analysis in a Taiwanese Cohort of 750 Index Patients with Clinically Diagnosed Familial Hypercholesterolemia-Reference-Cited by-同舟云学术

Genetic Analysis in a Taiwanese Cohort of 750 Index Patients with Clinically Diagnosed Familial Hypercholesterolemia

Published:2021 Issue: Volume: Page:
ISSN:1340-3478
Container-title:Journal of Atherosclerosis and Thrombosis
language:en
Short-container-title:JAT

Author:

Huang Chin-Chou¹²³⁴,Niu Dau-Ming⁵⁶,Charng Min-Ji¹²

Affiliation:

1. Division of Cardiology, Department of Medicine, Taipei Veterans General Hospital

2. School of Medicine, National Yang Ming Chiao Tung University

3. Cardiovascular Research Center, National Yang Ming Chiao Tung University

4. Institute of Pharmacology, National Yang Ming Chiao Tung University

5. Institute of Clinical Medicine, National Yang Ming Chiao Tung University

6. Department of Pediatrics, Taipei Veterans General Hospital

Publisher

Japan Atherosclerosis Society

Subject

Biochemistry (medical),Cardiology and Cardiovascular Medicine,Internal Medicine

Link

https://www.jstage.jst.go.jp/article/jat/advpub/0/advpub_62773/_pdf

Reference30 articles.

1. 1) WHO. Human Genetic program. Familial hypercholesterolemia, report of a WHO consultation. WHO/HGN/FH/CONS/98.7 Paris; October 1997. Available at: http://www.who.int/iris/handle/10665/64162

2. 2) Goldstein JL, Hobbs HH, Brown MS. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. Familial hypercholesterolemia. The metabolic and molecular basis of inherited disease. New York: McGraw-Hill, 2001. p. 2863-2913

3. 3) Defesche JC, Pricker KL, Hayden MR, van der Ende BE, Kastelein JJ. Familial defective apolipoprotein B-100 is clinically indistinguishable from familial hypercholesterolemia. Arch Intern Med, 1993; 153: 2349-2356

4. 4) Nordestgaard BG, Chapman MJ, Humphries SE, Ginsberg HN, Masana L, Descamps OS, Wiklund O, Hegele RA, Raal FJ, Defesche JC, Wiegman A, Santos RD, Watts GF, Parhofer KG, Hovingh GK, Kovanen PT, Boileau C, Averna M, Borén J, Bruckert E, Catapano AL, Kuivenhoven JA, Pajukanta P, Ray K, Stalenhoef AF, Stroes E, Taskinen MR, Tybjærg-Hansen A; European Atherosclerosis Society Consensus Panel. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society. Eur Heart J, 2013; 34: 3478-3490a

5. 5) Hori M, Ohta N, Takahashi A, Masuda H, Isoda R, Yamamoto S, Son C, Ogura M, Hosoda K, Miyamoto Y, Harada-Shiba M. Impact of LDLR and PCSK9 pathogenic variants in Japanese heterozygous familial hypercholesterolemia patients. Atherosclerosis, 2019; 289: 101-108

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