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Year Number of Results
1983 1
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1999 3
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2002 3
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2009 4
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117 results

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Page 1
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.
ABBREVIATIONS: apoB = apolipoprotein B; apoC-III = apolipoprotein CIII; ASO = antisense oligonucleotide; FCS = familial chylomicronemia syndrome; HTG = hypertriglyceridemia; LPL = lipoprotein lipase; LPLD = lipoprotein lipase deficiency....
ABBREVIATIONS: apoB = apolipoprotein B; apoC-III = apolipoprotein CIII; ASO = antisense oligonucleotide; FCS = familial chylomicronemia synd …
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 pancreatitis in child …
OBJECTIVES: To analyse the clinical and molecular spectrum of Lipoprotein Lipase (LPL) deficiency and to highlight the effect of a co …
Human lipoprotein lipase deficiency: does chronic dyslipidemia lead to increased oxidative stress and mitochondrial DNA damage in blood cells?
Ven Murthy MR, Julien P, Singh P, Levy E. Ven Murthy MR, et al. Acta Biochim Pol. 1996;43(1):227-40. Acta Biochim Pol. 1996. PMID: 8790727 Review.
Lipoprotein lipase (LPL) is a key enzyme in the metabolism of lipoproteins and their balanced distribution in the plasma. A deficiency of this enzyme due to gene mutations leads to severe dyslipidemia. In this report, we describe the major LPL gene mutations that ar …
Lipoprotein lipase (LPL) is a key enzyme in the metabolism of lipoproteins and their balanced distribution in the plasma. A deficienc …
Primary lipoprotein lipase deficiency.
Brunzell JD, Iverius PH, Scheibel MS, Fujimoto WY, Hayden MR, McLeod R, Frolich J. Brunzell JD, et al. Adv Exp Med Biol. 1986;201:227-39. doi: 10.1007/978-1-4684-1262-8_20. Adv Exp Med Biol. 1986. PMID: 3541517 Review.
The enzyme lipoprotein lipase plays a central role in the processing of energy in the form of calorically dense triglyceride. Classical LPL deficiency usually presents in childhood with the multiple manifestations related to chylomicronemia. ...
The enzyme lipoprotein lipase plays a central role in the processing of energy in the form of calorically dense triglyceride. Classical L …
Alipogene tiparvovec: gene therapy for lipoprotein lipase deficiency.
Wierzbicki AS, Viljoen A. Wierzbicki AS, et al. Expert Opin Biol Ther. 2013 Jan;13(1):7-10. doi: 10.1517/14712598.2013.738663. Epub 2012 Nov 6. Expert Opin Biol Ther. 2013. PMID: 23126631
Homozygous lipoprotein lipase (LPL) deficiency is an ultra-orphan disease associated with increased rates of pancreatitis. ...Alipogene tiparvovec is the first possibly curative treatment for LPL deficiency....
Homozygous lipoprotein lipase (LPL) deficiency is an ultra-orphan disease associated with increased rates of pancreatitis. ...Alipoge …
Novel LPL mutations associated with lipoprotein lipase deficiency: two case reports and a literature review.
Rahalkar AR, Giffen F, Har B, Ho J, Morrison KM, Hill J, Wang J, Hegele RA, Joy T. Rahalkar AR, et al. Can J Physiol Pharmacol. 2009 Mar;87(3):151-60. doi: 10.1139/y09-005. Can J Physiol Pharmacol. 2009. PMID: 19295657 Review.
Lipoprotein lipase (LPL) is a key enzyme involved with hydrolysis and removal of triglycerides from plasma. ...Nearly 100 mutations in the LPL gene have been associated with LPL deficiency. Here we report 2 unrelated pedigrees with LPL deficiency from …
Lipoprotein lipase (LPL) is a key enzyme involved with hydrolysis and removal of triglycerides from plasma. ...Nearly 100 mutations i …
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 lead t …
Long-Term Treatment of Lipoprotein Lipase Deficiency with Medium-Chain Triglyceride-Enriched Diet: A Case Series.
Aljouda L, Nagy L, Schulze A. Aljouda L, et al. Nutrients. 2023 Aug 11;15(16):3535. doi: 10.3390/nu15163535. Nutrients. 2023. PMID: 37630727 Free PMC article.
No pharmacological treatment sustainably lowering triglycerides (TGs) in LPL deficiency patients has been proven to be effective. This study investigated whether a long-chain triglyceride (LCT)-restricted, medium-chain triglyceride (MCT)-supplemented diet enables a meaning …
No pharmacological treatment sustainably lowering triglycerides (TGs) in LPL deficiency patients has been proven to be effective. Thi …
Molecular genetics of human lipoprotein lipase deficiency.
Hayden MR, Ma Y. Hayden MR, et al. Mol Cell Biochem. 1992 Aug 18;113(2):171-6. doi: 10.1007/BF00231536. Mol Cell Biochem. 1992. PMID: 1518507 Review.
Worldwide, more than 20 mutations in the LPL gene have been identified in patients with familial LPL deficiency. Most of these mutations are clustered in the region encoded by exons 4, 5 and 6 which forms the proposed catalytic domain of LPL. In French Canadi …
Worldwide, more than 20 mutations in the LPL gene have been identified in patients with familial LPL deficiency. Most of these …
Update on the molecular biology of dyslipidemias.
Ramasamy I. Ramasamy I. Clin Chim Acta. 2016 Feb 15;454:143-85. doi: 10.1016/j.cca.2015.10.033. Epub 2015 Nov 4. Clin Chim Acta. 2016. PMID: 26546829 Review.
Monogenic hypertriglyceridemia is the result of mutations in genes that regulate the metabolism of triglyceride rich lipoproteins (eg LPL, APOC2, APOA5, LMF1, GPIHBP1). Conversely familial hypobetalipoproteinemia is caused by inactivation of the PCSK9 gene which increases …
Monogenic hypertriglyceridemia is the result of mutations in genes that regulate the metabolism of triglyceride rich lipoproteins (eg LPL …
117 results