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Items: 1 to 20 of 500

1.
Tamoxifen precipitation of familial hypertriglyceridaemia: a rare cause of acute pancreatitis
Ali Wadood, Robert Chesner, Mehboob Mirza, Shafquat Zaman
BMJ Case Rep. 2016; 2016: bcr2016214837. Published online 2016 Aug 3. doi: 10.1136/bcr-2016-214837
PMCID:
PMC4986136
AbstractArticlePDF–286K
2.
Rare Diagnosis of Familial Partial Lipodystrophy in a Patient With Life-Threatening Pancreatitis due to Hypertriglyceridemia
Chukwuka Akamnonu, Masako Ueda, Ankit Shah
AACE Clin Case Rep. 2022 Jan-Feb; 8(1): 11–14. Published online 2021 Jun 16. doi: 10.1016/j.aace.2021.06.005
PMCID:
PMC8784711
AbstractArticlePDF–587K
3.
Extremely low levels of low-density lipoprotein potentially suggestive of familial hypobetalipoproteinemia: A separate phenotype of NAFLD?
Marialena Mouzaki, Amy Shah, Ana Catalina Arce-Clachar, Jennifer Hardy, Kristin Bramlage, Stavra A. Xanthakos
J Clin Lipidol. Author manuscript; available in PMC 2022 Feb 10.
Published in final edited form as: J Clin Lipidol. 2019 May-Jun; 13(3): 425–431. Published online 2019 Feb 14. doi: 10.1016/j.jacl.2019.02.002
PMCID:
PMC8830607
AbstractArticlePDF–382K
4.
An Infant with Milky Blood : An Unusual but Treatable Case of Familial Hyperlipidemia
Om Shankar Chaurasiya, Lalit Kumar, Rohit Shamsher Sethi
Indian J Clin Biochem. 2013 Apr; 28(2): 206–209. Published online 2012 Dec 11. doi: 10.1007/s12291-012-0285-9
PMCID:
PMC3613496
AbstractArticlePDF–220K
5.
Familial adult onset hyperinsulinism due to an activating glucokinase mutation: Implications for pharmacological glucokinase activation
Benjamin G. Challis, Julie Harris, Alison Sleigh, Iona Isaac, Steve M. Orme, Nandini Seevaratnam, Ketan Dhatariya, Helen L. Simpson, Robert K. Semple
Clin Endocrinol (Oxf) Author manuscript; available in PMC 2016 Feb 2.
Published in final edited form as: Clin Endocrinol (Oxf). 2014 Dec; 81(6): 855–861. Published online 2014 Jul 2. doi: 10.1111/cen.12517
PMCID:
PMC4735948
AbstractArticlePDF–655K
6.
Case Report: A New Peroxisome Proliferator-Activated Receptor Gamma Mutation Causes Familial Partial Lipodystrophy Type 3 in a Chinese Patient
Xi Chen, Zhiqiang Ma, Peng Chen, Xiuli Song, Weihua Li, Xuefeng Yu, Junhui Xie
Front Endocrinol (Lausanne) 2022; 13: 830708. Published online 2022 Mar 29. doi: 10.3389/fendo.2022.830708
PMCID:
PMC9001891
AbstractArticlePDF–2.2M
7.
Familial Partial Lipodystrophy—Literature Review and Report of a Novel Variant in PPARG Expanding the Spectrum of Disease-Causing Alterations in FPLD3
Lena Rutkowska, Dominik Salachna, Krzysztof Lewandowski, Andrzej Lewiński, Agnieszka Gach
Diagnostics (Basel) 2022 May; 12(5): 1122. Published online 2022 Apr 30. doi: 10.3390/diagnostics12051122
PMCID:
PMC9139680
AbstractArticlePDF–2.2M
8.
The Genetic Spectrum of Familial Hypertriglyceridemia in Oman
Khalid Al-Waili, Khalid Al-Rasadi, Muna Al-Bulushi, Mohammed Habais, Abdullah Al-Mujaini, Saif Al-Yaarubi, Antoine Rimbert, Razan Zadjali, Pegah Moradi Khaniabadi, Hamida Al-Barwani, Sana Hasary, Zayana M. Al-Dahmani, Hala Al-Badi, Almundher Al-Maawali, Fahad Zadjali
Front Genet. 2022; 13: 886182. Published online 2022 May 20. doi: 10.3389/fgene.2022.886182
PMCID:
PMC9163817
AbstractArticlePDF–1.1M
9.
Severe hypertriglyceridemia as a cause of necrotizing pancreatitis in a pediatric patient with familial hyperchylomicronemia syndrome: A case report
Laura Valenzuela-Vallejo, Daniela Meléndrez-Vásquez, Paola Durán-Ventura, Carolina Rivera-Nieto, Adriana Lema, Monica Fernandez
SAGE Open Med Case Rep. 2022; 10: 2050313X221109972. Published online 2022 Jul 7. doi: 10.1177/2050313X221109972
PMCID:
PMC9274426
AbstractArticlePDF–674K
10.
Pregnancies Complicated by Familial Hypertriglyceridemia: A Case Report
Suzanne Cao, NhuChi Dao, Kristina Roloff, Guillermo J. Valenzuela
AJP Rep. 2018 Oct; 8(4): e362–e364. Published online 2018 Dec 26. doi: 10.1055/s-0038-1676832
PMCID:
PMC6306273
AbstractArticlePDF–103K
11.
Clinical, biochemical and molecular analysis of two infants with familial chylomicronemia syndrome
Yonghong Zhang, Jing Zhou, Wenxin Zheng, Zhangzhang Lan, Zhiwei Huang, Qingnan Yang, Chengbo Liu, Rui Gao, Yongjun Zhang
Lipids Health Dis. 2016; 15: 88. Published online 2016 May 6. doi: 10.1186/s12944-016-0254-z
PMCID:
PMC4859971
AbstractArticlePDF–1.1M
12.
An unusual case of familial hyperlipidaemia
Renu Nagar, Uma Arora
Indian J Clin Biochem. 2008 Jul; 23(3): 302–304. Published online 2008 Oct 1. doi: 10.1007/s12291-008-0069-4
PMCID:
PMC3453435
SummaryPDF–90K
13.
Severe Familial Hypertriglyceridemia: Successful Treatment With Insulin and a Modified Meal Plan
Ahila Ayyavoo, Palany Raghupathy, Meenal Agarwal, Paul Hofman
J Endocr Soc. 2018 Dec 1; 2(12): 1357–1362. Published online 2018 Nov 1. doi: 10.1210/js.2018-00299
PMCID:
PMC6270957
AbstractArticlePDF–233K
14.
Familial Hemophagocytic Lymphohistiocytosis Secondary to PRF1 Mutation
Albaraa T. Alfaraidi, Abdulaziz A. Alqarni, Mohammed T. Aqeel, Turki A. Albalawi, Ahmed S. Hejazi
Case Rep Hematol. 2021; 2021: 7213939. Published online 2021 Dec 29. doi: 10.1155/2021/7213939
PMCID:
PMC8731261
AbstractArticlePDF–369K
15.
Acute anterior myocardial infarction in a 22-year-old male nephrotic patient along with familial hyperlipidaemia
Junzhong Zeng, Jinhua Li, Jiyu Zhang
Cardiol Young. 2018 Nov; 28(11): 1348–1352. Published online 2018 Jul 24. doi: 10.1017/S1047951118001130
PMCID:
PMC6199550
AbstractArticlePDF–2.1M
16.
Novel pathogenic variant combination in LPL causing familial chylomicronemia syndrome in an Asian family and experimental validation in vitro: a case report
Huiping Shi, Zhaoyue Wang
Transl Pediatr. 2022 Oct; 11(10): 1717–1725. doi: 10.21037/tp-22-15
PMCID:
PMC9636460
AbstractArticlePDF–2.0M
17.
Phenotypic Differences Among Familial Partial Lipodystrophy Due to LMNA or PPARG Variants
Chandna Vasandani, Xilong Li, Hilal Sekizkardes, Rebecca J Brown, Abhimanyu Garg
J Endocr Soc. 2022 Oct 26; 6(12): bvac155. Published online 2022 Oct 11. doi: 10.1210/jendso/bvac155
PMCID:
PMC9664976
AbstractArticlePDF–465K
18.
APOC3 Interference for Familial Chylomicronaemia Syndrome
Robert A Hegele
touchREV Endocrinol. 2022 Nov; 18(2): 82–83. Published online 2022 Nov 2. doi: 10.17925/EE.2022.18.2.82
PMCID:
PMC9835816
AbstractArticlePDF–80K
19.
Deficient Cholesterol Esterification in Plasma of apoc2 Knockout Zebrafish and Familial Chylomicronemia Patients
Chao Liu, Daniel Gaudet, Yury I. Miller
PLoS One. 2017; 12(1): e0169939. Published online 2017 Jan 20. doi: 10.1371/journal.pone.0169939
PMCID:
PMC5249157
AbstractArticlePDF–1.1M
20.
Angiopoietin-like proteins inhibitors: New horizons in the treatment of atherogenic dyslipidemia and familial hypercholesterolemia
Stanisław Surma, Monika Romańczyk, Krzysztof J. Filipiak
Cardiol J. 2023; 30(1): 131–142. Published online 2023 Feb 27. doi: 10.5603/CJ.a2021.0006
PMCID:
PMC9987553
AbstractArticlePDF–282K

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