Genetic Analysis of Japanese Children Clinically Diagnosed with Familial Hypercholesterolemia-Reference-Cited by-同舟云学术

Genetic Analysis of Japanese Children Clinically Diagnosed with Familial Hypercholesterolemia

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

Author:

Nagahara Keiko¹,Nishibukuro Tsuyoshi²,Ogiwara Yasuko²,Ikegawa Kento²,Tada Hayato³,Yamagishi Masakazu³,Kawashiri Masa-aki³,Ochi Ayako¹,Toyoda Junya¹,Nakano Yuya¹,Adachi Masanori¹,Mizuno Katsumi¹,Hasegawa Yukihiro²,Dobashi Kazushige¹⁴

Affiliation:

1. Department of Pediatrics, Showa University School of Medicine

2. Department of Endocrinology and Metabolism, Tokyo Metropolitan Children's Medical Center

3. Department of Cardiovascular and Internal Medicine. Kanazawa University Graduate School of Medicine

4. Department of Pediatrics, School of Medicine, University of Yamanashi

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_62807/_pdf

Reference39 articles.

1. 1) Goldstein JL, Brown MS. Familial hypercholesterolemia. In: Scriver CR, Beaudet AL, Sly WS, Valle I, eds. The Metabolic Basis of Inherited Disease. 6th ed. New York, NY: McGraw-Hill International Book Co; 1989: 1215-1250

2. 2) Innerarity TL, Weisgraber KH, Arnold KS, Mahley RW, Krauss RM, Vega GL, Grundy SM. Familial defective apolipoprotein B-100: low density lipoproteins with abnormal receptor binding. Proc Natl Acad Sci U S A, 1987; 84: 6919-6923

3. 3) Abifadel M, Varret M, Rabès JP, Allard D, Ouguerram K, Devillers M, Cruaud C, Benjannet S, Wickham L, Erlich D, Derré A, Villéger L, Farnier M, Beucler I, Bruckert E, Chambaz J, Chanu B, Lecerf JM, Luc G, Moulin P, Weissenbach J, Prat A, Krempf M, Junien C, Seidah NG, Boileau C. Mutations in PCSK9 cause autosomal dominant hypercholesterolemia. Nat Genet, 2003; 34: 154-156

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) Mabuchi H. Half a Century Tales of Familial Hypercholesterolemia (FH) in Japan. J Atheroscler Thromb, 2017; 24: 189-207

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