U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from MedGen

Items: 1 to 20 of 37

1.
Identification of a Compound Heterozygous LMF1 Variants in a Patient with Severe Hypertriglyceridemia – Case Report and Literature Review
Conghui Cao, Yuqi Liu, Lu Liu, Xiaoli Wang
J Atheroscler Thromb. 2024 Jul 1; 31(7): 1106–1111. Published online 2024 Mar 9. doi: 10.5551/jat.64697
PMCID:
PMC11224691
AbstractArticlePDF–1.1M
2.
Implementation of a primary-tertiary shared care model to improve the detection of familial hypercholesterolaemia (FH): a mixed methods pre-post implementation study protocol
Karen Birkenhead, David Sullivan, Claire Trumble, Catherine Spinks, Shubha Srinivasan, Andrew Partington, Luke Elias, Charlotte Mary Hespe, Gabrielle Fleming, Stephen Li, Madeline Calder, Elizabeth Robertson, Ronald Trent, Mitchell N Sarkies
BMJ Open. 2024; 14(5): e082699. Published online 2024 May 1. doi: 10.1136/bmjopen-2023-082699
PMCID:
PMC11086381
AbstractArticlePDF–2.9M
3.
Familial chylomicronemia syndrome: case reports of siblings with deletions of the GPIHBP1 gene
Ka Young Kim, You Joung Heo, Jung Min Ko, Young Ah Lee, Choong Ho Shin, Chang Seok Ki, Yun Jeong Lee
BMC Endocr Disord. 2024; 24: 47. Published online 2024 Apr 15. doi: 10.1186/s12902-024-01574-9
PMCID:
PMC11017581
AbstractArticlePDF–1.1M
4.
Significant but partial lipoprotein lipase functional loss caused by a novel occurrence of rare LPL biallelic variants
Yuepeng Hu, Jian-Min Chen, Han Zuo, Na Pu, Guofu Zhang, Yichen Duan, Gang Li, Zhihui Tong, Weiqin Li, Baiqiang Li, Qi Yang
Lipids Health Dis. 2024; 23: 92. Published online 2024 Apr 1. doi: 10.1186/s12944-024-02086-0
PMCID:
PMC10983719
AbstractArticlePDF–2.1M
5.
Understanding Hypertriglyceridemia: Integrating Genetic Insights
Mara Alves, Francisco Laranjeira, Georgina Correia-da-Silva
Genes (Basel) 2024 Feb; 15(2): 190. Published online 2024 Jan 30. doi: 10.3390/genes15020190
PMCID:
PMC10887881
AbstractArticlePDF–858K
6.
Unraveling the genetic background of individuals with a clinical familial hypercholesterolemia phenotype
Ana Margarida Medeiros, Ana Catarina Alves, Beatriz Miranda, Joana Rita Chora, Mafalda Bourbon, investigators of the Portuguese FH Study
J Lipid Res. 2024 Feb; 65(2): 100490. Published online 2023 Dec 18. doi: 10.1016/j.jlr.2023.100490
PMCID:
PMC10832474
AbstractArticlePDF–1.0M
7.
2023 Update on European Atherosclerosis Society Consensus Statement on Homozygous Familial Hypercholesterolaemia: new treatments and clinical guidance
Marina Cuchel, Frederick J Raal, Robert A Hegele, Khalid Al-Rasadi, Marcello Arca, Maurizio Averna, Eric Bruckert, Tomas Freiberger, Daniel Gaudet, Mariko Harada-Shiba, Lisa C Hudgins, Meral Kayikcioglu, Luis Masana, Klaus G Parhofer, Jeanine E Roeters van Lennep, Raul D Santos, Erik S G Stroes, Gerald F Watts, Albert Wiegman, Jane K Stock, Lale S Tokgözoğlu, Alberico L Catapano, Kausik K Ray
Eur Heart J. 2023 Jul 1; 44(25): 2277–2291. Published online 2023 May 2. doi: 10.1093/eurheartj/ehad197
PMCID:
PMC10314327
AbstractArticlePDF–1.1M
8.
Contemporary Homozygous Familial Hypercholesterolemia in the United States: Insights From the CASCADE FH Registry
Marina Cuchel, Paul C. Lee, Lisa C. Hudgins, P. Barton Duell, Zahid Ahmad, Seth J. Baum, MacRae F. Linton, Sarah D. de Ferranti, Christie M. Ballantyne, John A. Larry, Linda C. Hemphill, Iris Kindt, Samuel S. Gidding, Seth S. Martin, Patrick M. Moriarty, Paul P. Thompson, James A. Underberg, John R. Guyton, Rolf L. Andersen, David J. Whellan, Irwin Benuck, John P. Kane, Kelly Myers, William Howard, David Staszak, Allison Jamison, Mary C. Card, Mafalda Bourbon, Joana R. Chora, Daniel J. Rader, Joshua W. Knowles, Katherine Wilemon, Mary P. McGowan
J Am Heart Assoc. 2023 May 2; 12(9): e029175. Published online 2023 Apr 29. doi: 10.1161/JAHA.122.029175
Correction in:
J Am Heart Assoc. 2023 Jun 6; 12(11): e027706.
PMCID:
PMC10227232
AbstractArticlePDF–1.1M
9.
Analyses of familial chylomicronemia syndrome in Pereira, Colombia 2010–2020: a cross-sectional study
Franklin Hanna Rodriguez, Jorge Mario Estrada, Henry Mauricio Arenas Quintero, Juan Patricio Nogueira, Gloria Liliana Porras-Hurtado
Lipids Health Dis. 2023; 22: 43. Published online 2023 Mar 28. doi: 10.1186/s12944-022-01768-x
PMCID:
PMC10045250
AbstractArticlePDF–1.2M
10.
Genetic Testing in Familial Hypercholesterolemia: Is It for Everyone?
A. M. Medeiros, M. Bourbon
Curr Atheroscler Rep. 2023; 25(4): 127–132. Published online 2023 Mar 2. doi: 10.1007/s11883-023-01091-5
PMCID:
PMC10027780
AbstractArticlePDF–743K
11.
Biochemical, Clinical, and Genetic Characteristics of Mexican Patients with Primary Hypertriglyceridemia, Including the First Case of Hyperchylomicronemia Syndrome Due to GPIHBP1 Deficiency
Perla Graciela Rodríguez-Gutiérrez, Ana Gabriela Colima-Fausto, Paola Montserrat Zepeda-Olmos, Teresita de Jesús Hernández-Flores, Juan Ramón González-García, María Teresa Magaña-Torres
Int J Mol Sci. 2023 Jan; 24(1): 465. Published online 2022 Dec 27. doi: 10.3390/ijms24010465
PMCID:
PMC9820378
AbstractArticlePDF–1.3M
12.
Familial hypertriglyceridemia: an entity with distinguishable features from other causes of hypertriglyceridemia
Ivette Cruz-Bautista, Alicia Huerta-Chagoya, Hortensia Moreno-Macías, Rosario Rodríguez-Guillén, María Luisa Ordóñez-Sánchez, Yayoi Segura-Kato, Roopa Mehta, Paloma Almeda-Valdés, Lizeth Gómez-Munguía, Ximena Ruiz-De Chávez, Ximena Rosas-Flota, Arali Andrade-Amado, Bárbara Bernal-Barroeta, María Guadalupe López-Carrasco, Luz Elizabeth Guillén-Pineda, Angelina López-Estrada, Daniel Elías-López, Alexandro J. Martagón-Rosado, Donají Gómez-Velasco, Cesar Ernesto Lam-Chung, Omar Yaxmehen Bello-Chavolla, Fabiola Del Razo-Olvera, Lucely D. Cetina-Pérez, José Luis Acosta-Rodríguez, María Teresa Tusié-Luna, Carlos A. Aguilar-Salinas
Lipids Health Dis. 2021; 20: 14. Published online 2021 Feb 15. doi: 10.1186/s12944-021-01436-6
PMCID:
PMC7885394
AbstractArticlePDF–1.0M
13.
Genetics of Hypertriglyceridemia
Jacqueline S. Dron, Robert A. Hegele
Front Endocrinol (Lausanne) 2020; 11: 455. Published online 2020 Jul 24. doi: 10.3389/fendo.2020.00455
PMCID:
PMC7393009
AbstractArticlePDF–10M
14.
Management of a pregnant patient with chylomicronemia from a novel mutation in GPIHBP1: a case report
Min-Huan Lin, Xiao-Hui Tian, Xiu-Lan Hao, Hui Fei, Jian-Lan Yin, Dan-Dan Yan, Tian Li
BMC Pregnancy Childbirth. 2020; 20: 272. Published online 2020 May 6. doi: 10.1186/s12884-020-02965-1
PMCID:
PMC7201967
AbstractArticlePDF–719K
15.
Identification of a novel LPL nonsense variant and further insights into the complex etiology and expression of hypertriglyceridemia-induced acute pancreatitis
Xiao-Yao Li, Na Pu, Wei-Wei Chen, Xiao-Lei Shi, Guo-fu Zhang, Lu Ke, Bo Ye, Zhi-Hui Tong, Yu-Hui Wang, George Liu, Jian-Min Chen, Qi Yang, Wei-Qin Li, Jie-Shou Li
Lipids Health Dis. 2020; 19: 63. Published online 2020 Apr 7. doi: 10.1186/s12944-020-01249-z
PMCID:
PMC7140582
AbstractArticlePDF–686K
16.
A lipoprotein lipase–GPI-anchored high-density lipoprotein–binding protein 1 fusion lowers triglycerides in mice: Implications for managing familial chylomicronemia syndrome
Amitabh V. Nimonkar, Stephen Weldon, Kevin Godbout, Darrell Panza, Susan Hanrahan, Rose Cubbon, Fangmin Xu, John W. Trauger, Jiaping Gao, Andrei Voznesensky
J Biol Chem. 2020 Mar 6; 295(10): 2900–2912. Published online 2019 Oct 23. doi: 10.1074/jbc.RA119.011079
PMCID:
PMC7062184
AbstractArticlePDF–2.9M
17.
Functional Analysis of LDLR (Low-Density Lipoprotein Receptor) Variants in Patient Lymphocytes to Assess the Effect of Evinacumab in Homozygous Familial Hypercholesterolemia Patients With a Spectrum of LDLR Activity
Poulabi Banerjee, Kuo-Chen Chan, Michel Tarabocchia, Asier Benito-Vicente, Ana C. Alves, Kepa B. Uribe, Mafalda Bourbon, Paul J. Skiba, Robert Pordy, Daniel A. Gipe, Daniel Gaudet, Cesar Martin
Arterioscler Thromb Vasc Biol. 2019 Nov; 39(11): 2248–2260. Published online 2019 Oct 3. doi: 10.1161/ATVBAHA.119.313051
PMCID:
PMC6818983
AbstractArticlePDF–2.3M
18.
Evaluation of the role of STAP1 in Familial Hypercholesterolemia
Magdalena Danyel, Claus-Eric Ott, Thomas Grenkowitz, Bastian Salewsky, Andrew A. Hicks, Christian Fuchsberger, Elisabeth Steinhagen-Thiessen, Thomas Bobbert, Ursula Kassner, Ilja Demuth
Sci Rep. 2019; 9: 11995. Published online 2019 Aug 19. doi: 10.1038/s41598-019-48402-y
PMCID:
PMC6700100
AbstractArticlePDF–1.2M
19.
A Compound Heterozygous Mutation of Lipase Maturation Factor 1 is Responsible for Hypertriglyceridemia of a Patient
Yihui Liu, Jiang Xu, Wanyun Tao, Rong Yu, Xinjiang Zhang
J Atheroscler Thromb. 2019 Feb 1; 26(2): 136–144. doi: 10.5551/jat.44537
PMCID:
PMC6365152
AbstractArticlePDF–1.2M
20.
Q192R polymorphism in the PON1 gene and familial hypercholesterolemia in a Saudi population
Khalid Khalaf Alharbi, May Salem Alnbaheen, Fawiziah Khalaf Alharbi, Rana M. Hasanato, Imran Ali Khan
Ann Saudi Med. 2017 Nov-Dec; 37(6): 425–432. doi: 10.5144/0256-4947.2017.425
PMCID:
PMC6074118
AbstractArticlePDF–583K

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Filter your results:

Find related data

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
You are here: NCBI > Literature > PubMed Central (PMC)
Support Center