Current Diagnosis and Management of Familial Hypobetalipoproteinemia 1-Reference-Cited by-同舟云学术

Current Diagnosis and Management of Familial Hypobetalipoproteinemia 1

Published:2024-07-01 Issue:7 Volume:31 Page:1005-1023
ISSN:1340-3478
Container-title:Journal of Atherosclerosis and Thrombosis
language:en
Short-container-title:JAT

Author:

Wakabayashi Tetsuji¹,Takahashi Manabu¹,Okazaki Hiroaki¹,Okazaki Sachiko²,Yokote Koutaro³,Tada Hayato⁴,Ogura Masatsune⁵,Ishigaki Yasushi⁶,Yamashita Shizuya⁷,Harada-Shiba Mariko⁸,

Affiliation:

1. Division of Endocrinology and Metabolism, Department of Internal Medicine, Jichi Medical University

2. Division for Health Service Promotion, The University of Tokyo

3. Chiba University

4. Department of Cardiovascular Medicine, Kanazawa University Graduate School of Medical Sciences

5. Department of Clinical Laboratory Technology, Faculty of Medical Science, Juntendo University

6. Division of Diabetes, Metabolism and Endocrinology, Department of Internal Medicine, Iwate Medical University

7. Department of Cardiology, Rinku General Medical Center

8. Cardiovascular Center, Osaka Medical and Pharmaceutical University

Publisher

Japan Atherosclerosis Society

Link

https://www.jstage.jst.go.jp/article/jat/31/7/31_RV22018/_pdf

Reference70 articles.

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2. 2) Rabacchi C, Simone ML, Pisciotta L, Di Leo E, Bocchi D, Pietrangelo A, D’Addato S, Bertolini S, Calandra S, Tarugi P: In vitro functional characterization of splicing variants of the APOB gene found in familial hypobetalipoproteinemia. J Clin Lipidol, 2019; 13: 960-969

3. 3) Peloso GM, Nomura A, Khera AV, Chaffin M, Won HH, Ardissino D, Danesh J, Schunkert H, Wilson JG, Samani N, Erdmann J, McPherson R, Watkins H, Saleheen D, McCarthy S, Teslovich TM, Leader JB, Lester Kirchner H, Marrugat J, Nohara A, Kawashiri MA, Tada H, Dewey FE, Carey DJ, Baras A, Kathiresan S: Rare Protein-Truncating Variants in APOB, Lower Low-Density Lipoprotein Cholesterol, and Protection Against Coronary Heart Disease. Circ Genom Precis Med, 2019; 12: e002376

4. 4) Blanco-Vaca F, Martin-Campos JM, Beteta-Vicente A, Canyelles M, Martinez S, Roig R, Farre N, Julve J, Tondo M: Molecular analysis of APOB, SAR1B, ANGPTL3, and MTTP in patients with primary hypocholesterolemia in a clinical laboratory setting: Evidence supporting polygenicity in mutation-negative patients. Atherosclerosis, 2019; 283: 52-60

5. 5) Elbitar S, Susan-Resiga D, Ghaleb Y, El Khoury P, Peloso G, Stitziel N, Rabes JP, Carreau V, Hamelin J, Ben-Djoudi-Ouadda A, Bruckert E, Boileau C, Seidah NG, Varret M, Abifadel M: New Sequencing technologies help revealing unexpected mutations in Autosomal Dominant Hypercholesterolemia. Sci Rep, 2018; 8: 1943

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