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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1947 1
1948 1
1951 2
1952 2
1954 2
1955 2
1956 1
1957 3
1958 3
1959 1
1960 4
1962 4
1963 28
1964 29
1965 18
1967 1
1972 1
1973 1
1974 2
1975 1
1976 3
1977 4
1978 3
1979 8
1980 7
1981 5
1982 11
1983 18
1984 6
1985 15
1986 15
1987 6
1988 11
1989 12
1990 17
1991 19
1992 36
1993 19
1994 11
1995 12
1996 22
1997 13
1998 13
1999 15
2000 10
2001 16
2002 10
2003 9
2004 7
2005 12
2006 10
2007 10
2008 8
2009 14
2010 6
2011 12
2012 15
2013 31
2014 26
2015 29
2016 32
2017 30
2018 36
2019 28
2020 36
2021 30
2022 32
2023 24
2024 13

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832 results

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Page 1
Lipoprotein Lipase Deficiency.
Kuthiroly S, Yesodharan D, Radhakrishnan N, Ganapathy A, Mannan AU, Hoffmann MM, Nampoothiri S. Kuthiroly S, et al. Indian J Pediatr. 2021 Feb;88(2):147-153. doi: 10.1007/s12098-020-03305-z. Epub 2020 May 30. Indian J Pediatr. 2021. PMID: 32472350
OBJECTIVES: To analyse the clinical and molecular spectrum of Lipoprotein Lipase (LPL) deficiency and to highlight the effect of a cost-effective indigenous diet for management of this disorder. ...CONCLUSIONS: Lipemic serum, chylothorax and recurrent pancrea …
OBJECTIVES: To analyse the clinical and molecular spectrum of Lipoprotein Lipase (LPL) deficiency and to highlight the …
Lipoprotein Lipase Deficiency: Diet is the Key!
Patil K, Gupta N. Patil K, et al. Indian J Pediatr. 2021 Feb;88(2):111-112. doi: 10.1007/s12098-020-03640-1. Epub 2021 Jan 12. Indian J Pediatr. 2021. PMID: 33432470 No abstract available.
Homozygous familial lipoprotein lipase deficiency without obvious coronary artery stenosis.
Minamizuka T, Kobayashi J, Tada H, Koshizaka M, Maezawa Y, Yokote K. Minamizuka T, et al. Clin Biochem. 2022 Oct;108:42-45. doi: 10.1016/j.clinbiochem.2022.07.001. Epub 2022 Jul 9. Clin Biochem. 2022. PMID: 35820489
The prevalence of familial lipoprotein lipase deficiency (LPLD) is approximately one in 1,000,000 in the general population. ...Next-generation sequencing analysis revealed a missense mutation (homo) in the LPL gene, c.662T>C (p. Ile221Thr), leading …
The prevalence of familial lipoprotein lipase deficiency (LPLD) is approximately one in 1,000,000 in the general …
Familial Chylomicronemia Syndrome: A Clinical Guide For Endocrinologists.
Falko JM. Falko JM. Endocr Pract. 2018 Aug;24(8):756-763. doi: 10.4158/EP-2018-0157. Endocr Pract. 2018. PMID: 30183397 Review.
OBJECTIVE: Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive disorder caused by mutations in lipoprotein lipase, resulting in accumulation of chylomicrons in plasma and hypertriglyceridemia. ...ABBREVIATIONS: apoB = apolipoprotein B; apoC- …
OBJECTIVE: Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive disorder caused by mutations in lipoprotein …
A Comprehensive Update on the Chylomicronemia Syndrome.
Goldberg RB, Chait A. Goldberg RB, et al. Front Endocrinol (Lausanne). 2020 Oct 23;11:593931. doi: 10.3389/fendo.2020.593931. eCollection 2020. Front Endocrinol (Lausanne). 2020. PMID: 33193106 Free PMC article. Review.
When due to very rare monogenic mutations in the genes encoding the enzyme, lipoprotein lipase, or its regulators, APOC2, APOA5, GPIHBP1, and LMF1, it is referred to as the familial chylomicronemia syndrome. ...These aggravating factors include common conditi …
When due to very rare monogenic mutations in the genes encoding the enzyme, lipoprotein lipase, or its regulators, APOC2, APOA …
Hypertriglyceridaemia: an update.
Wierzbicki AS, Kim EJ, Esan O, Ramachandran R. Wierzbicki AS, et al. J Clin Pathol. 2022 Dec;75(12):798-806. doi: 10.1136/jclinpath-2021-207719. Epub 2022 Jun 16. J Clin Pathol. 2022. PMID: 35710321 Review.
Elevations in TGs are associated with increased cardiovascular disease risk through triglyceride-rich lipoprotein particles found as part of non-HDL cholesterol. Many elevations of TGs are secondary to other causes, but primary hypertriglyceridaemia syndromes need to be id …
Elevations in TGs are associated with increased cardiovascular disease risk through triglyceride-rich lipoprotein particles found as …
Alipogene tiparvovec: a review of its use in adults with familial lipoprotein lipase deficiency.
Scott LJ. Scott LJ. Drugs. 2015 Feb;75(2):175-82. doi: 10.1007/s40265-014-0339-9. Drugs. 2015. PMID: 25559420 Review.
Alipogene tiparvovec (Glybera; AMT-011, AAV1-LPL(S447X)) is an adeno-associated virus serotype 1-based gene therapy for adult patients with familial lipoprotein lipase (LPL) deficiency (LPLD) and suffering from severe or multiple pancreatitis attacks d …
Alipogene tiparvovec (Glybera; AMT-011, AAV1-LPL(S447X)) is an adeno-associated virus serotype 1-based gene therapy for adult patients with …
Evinacumab in severe hypertriglyceridemia with or without lipoprotein lipase pathway mutations: a phase 2 randomized trial.
Rosenson RS, Gaudet D, Ballantyne CM, Baum SJ, Bergeron J, Kershaw EE, Moriarty PM, Rubba P, Whitcomb DC, Banerjee P, Gewitz A, Gonzaga-Jauregui C, McGinniss J, Ponda MP, Pordy R, Zhao J, Rader DJ. Rosenson RS, et al. Nat Med. 2023 Mar;29(3):729-737. doi: 10.1038/s41591-023-02222-w. Epub 2023 Mar 6. Nat Med. 2023. PMID: 36879129 Free PMC article. Clinical Trial.
This phase 2 trial ( NCT03452228 ) evaluated evinacumab (angiopoietin-like 3 inhibitor) in three cohorts of patients with sHTG: cohort 1, familial chylomicronemia syndrome with bi-allelic loss-of-function lipoprotein lipase (LPL) pathway mutations (n = 17); c …
This phase 2 trial ( NCT03452228 ) evaluated evinacumab (angiopoietin-like 3 inhibitor) in three cohorts of patients with sHTG: cohort 1, …
Volanesorsen and Triglyceride Levels in Familial Chylomicronemia Syndrome.
Witztum JL, Gaudet D, Freedman SD, Alexander VJ, Digenio A, Williams KR, Yang Q, Hughes SG, Geary RS, Arca M, Stroes ESG, Bergeron J, Soran H, Civeira F, Hemphill L, Tsimikas S, Blom DJ, O'Dea L, Bruckert E. Witztum JL, et al. N Engl J Med. 2019 Aug 8;381(6):531-542. doi: 10.1056/NEJMoa1715944. N Engl J Med. 2019. PMID: 31390500 Clinical Trial.
BACKGROUND: Familial chylomicronemia syndrome is a rare genetic disorder that is caused by loss of lipoprotein lipase activity and characterized by chylomicronemia and recurrent episodes of pancreatitis. ...CONCLUSIONS: Volanesorsen lowered triglyceride level …
BACKGROUND: Familial chylomicronemia syndrome is a rare genetic disorder that is caused by loss of lipoprotein lipase a …
Preclinical Development and Characterization of Novel Adeno-Associated Viral Vectors for the Treatment of Lipoprotein Lipase Deficiency.
Mehta N, Gilbert R, Chahal PS, Moreno MJ, Nassoury N, Coulombe N, Lytvyn V, Mercier M, Fatehi D, Lin W, Harvey EM, Zhang LH, Nazemi-Moghaddam N, Elahi SM, Ross CJD, Stanimirovic DB, Hayden MR. Mehta N, et al. Hum Gene Ther. 2023 Sep;34(17-18):927-946. doi: 10.1089/hum.2023.075. Hum Gene Ther. 2023. PMID: 37597209
Lipoprotein lipase deficiency (LPLD) results from mutations within the lipoprotein lipase (LPL) gene that lead to a complete lack of catalytically active LPL protein. ...
Lipoprotein lipase deficiency (LPLD) results from mutations within the lipoprotein lipase (LPL) gene that …
832 results