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

Year Number of Results
1948 1
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1954 3
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1957 2
1959 1
1960 1
1961 2
1962 3
1963 3
1964 3
1965 3
1966 2
1967 5
1968 8
1969 7
1970 16
1971 10
1972 8
1973 8
1974 5
1975 15
1976 13
1977 13
1978 12
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1981 16
1982 10
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1985 18
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1987 17
1988 22
1989 30
1990 28
1991 35
1992 27
1993 38
1994 32
1995 32
1996 36
1997 37
1998 41
1999 36
2000 42
2001 40
2002 29
2003 34
2004 38
2005 52
2006 35
2007 48
2008 51
2009 54
2010 56
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2012 89
2013 120
2014 112
2015 122
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2017 154
2018 149
2019 140
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2024 43

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2,549 results

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Page 1
Recent insights into lysosomal acid lipase deficiency.
Korbelius M, Kuentzel KB, Bradić I, Vujić N, Kratky D. Korbelius M, et al. Trends Mol Med. 2023 Jun;29(6):425-438. doi: 10.1016/j.molmed.2023.03.001. Epub 2023 Apr 5. Trends Mol Med. 2023. PMID: 37028992 Free PMC article. Review.
Lysosomal acid lipase (LAL) is the sole enzyme known to degrade neutral lipids in the lysosome. ...This review discusses the consequences of defective LAL-mediated lipid hydrolysis on cellular lipid homeostasis, epidemiology, and clinical presentation. Early detecti …
Lysosomal acid lipase (LAL) is the sole enzyme known to degrade neutral lipids in the lysosome. ...This review discusses the c …
Lysosomal Acid Lipase Activity in Non-alcoholic Fatty Liver Disease as a Novel Diagnostic and Therapeutic Target: A Systematic Literature Review of Current Evidence and Future Directions.
Bashir A, Duseja A, Verma A, De A, Tiwari P. Bashir A, et al. J Clin Exp Hepatol. 2022 Nov-Dec;12(6):1535-1546. doi: 10.1016/j.jceh.2022.04.011. Epub 2022 Apr 15. J Clin Exp Hepatol. 2022. PMID: 36340307 Free PMC article. Review.
BACKGROUND AND AIM: Non-alcoholic fatty liver disease (NAFLD) presents with the accumulation of excessive intra-hepatic fat without significant alcohol intake. Multifactorial pathogenesis is reported to be involved. Reduced lysosomal acid lipase (LAL) activit …
BACKGROUND AND AIM: Non-alcoholic fatty liver disease (NAFLD) presents with the accumulation of excessive intra-hepatic fat without s …
Lysosomal acid lipase deficiency: a form of non-obese fatty liver disease (NOFLD).
A-Kader HH. A-Kader HH. Expert Rev Gastroenterol Hepatol. 2017 Oct;11(10):911-924. doi: 10.1080/17474124.2017.1343144. Epub 2017 Jun 26. Expert Rev Gastroenterol Hepatol. 2017. PMID: 28612634 Review.
With the growing obesity epidemic, nonalcoholic fatty liver disease (NAFLD) is rapidly becoming one of the leading causes of liver disease worldwide. ...Areas covered: This article discusses causes of fatty liver in non-obese subjects focusing on Lysosomal acid …
With the growing obesity epidemic, nonalcoholic fatty liver disease (NAFLD) is rapidly becoming one of the leading causes of liver …
Lysosomal acid lipase deficiency: wolman disease and cholesteryl ester storage disease.
Tylki-Szymańska A, Jurecka A. Tylki-Szymańska A, et al. Pril (Makedon Akad Nauk Umet Odd Med Nauki). 2014;35(1):99-106. Pril (Makedon Akad Nauk Umet Odd Med Nauki). 2014. PMID: 24798600 Review.
Cholesteryl ester storage disease (CESD, OMIM #278000) and Wolman disease (OMIM #278000) are autosomal recessive lysosomal storage disorders caused by a deficient activity of lysosomal acid lipase (cholesteryl ester hydrolase, LAL). ...In Wol …
Cholesteryl ester storage disease (CESD, OMIM #278000) and Wolman disease (OMIM #278000) are autosomal recessive lysoso …
Reduced lysosomal acid lipase activity: A new marker of liver disease severity across the clinical continuum of non-alcoholic fatty liver disease?
Baratta F, Pastori D, Ferro D, Carluccio G, Tozzi G, Angelico F, Violi F, Del Ben M. Baratta F, et al. World J Gastroenterol. 2019 Aug 14;25(30):4172-4180. doi: 10.3748/wjg.v25.i30.4172. World J Gastroenterol. 2019. PMID: 31435171 Free PMC article. Review.
Lysosomal acid lipase (LAL) plays a key role in intracellular lipid metabolism. Reduced LAL activity promotes increased multi-organ lysosomal cholesterol ester storage, as observed in two recessive autosomal genetic diseases, Wolman disease and Cholest …
Lysosomal acid lipase (LAL) plays a key role in intracellular lipid metabolism. Reduced LAL activity promotes increased multi- …
Lysosomal acid lipase deficiency: A rare inherited dyslipidemia but potential ubiquitous factor in the development of atherosclerosis and fatty liver disease.
Besler KJ, Blanchard V, Francis GA. Besler KJ, et al. Front Genet. 2022 Sep 20;13:1013266. doi: 10.3389/fgene.2022.1013266. eCollection 2022. Front Genet. 2022. PMID: 36204319 Free PMC article. Review.
Lysosomal acid lipase (LAL), encoded by the gene LIPA, is the sole neutral lipid hydrolase in lysosomes, responsible for cleavage of cholesteryl esters and triglycerides into their component parts. Inherited forms of complete (Wolman Disease, WD) or pa …
Lysosomal acid lipase (LAL), encoded by the gene LIPA, is the sole neutral lipid hydrolase in lysosomes, responsible for cleav …
Liver disease and dyslipidemia as a manifestation of lysosomal acid lipase deficiency (LAL-D). Clinical and diagnostic aspects, and a new treatment. An update.
Bay L, Canero Velasco C, Ciocca M, Cotti A, Cuarterolo M, Fainboim A, Fassio E, Galoppo M, Pinero F, Rozenfeld P. Bay L, et al. Arch Argent Pediatr. 2017 Jun 1;115(3):287-293. doi: 10.5546/aap.2017.eng.287. Arch Argent Pediatr. 2017. PMID: 28504497 Free article. Review. English, Spanish.
Lysosomal acid lipase deficiency (LAL-D) is still a little recognized genetic disease with significant morbidity and mortality in children and adults. This document provides guidance on when to suspect LAL-D and how to diagnose it. It is recommended to add ly …
Lysosomal acid lipase deficiency (LAL-D) is still a little recognized genetic disease with significant morbidity and mo …
[Lysosomal acid lipase deficiency (LAL-D) : Diagnostic and therapeutic options in an underdiagnosed disease].
Synoracki S, Kathemann S, Schmid KW, Jastrow H, Baba HA. Synoracki S, et al. Pathologe. 2018 May;39(3):249-254. doi: 10.1007/s00292-017-0400-z. Pathologe. 2018. PMID: 29234937 Review. German.
BACKGROUND AND CLINICAL SETTING: Lysosomal acid lipase deficiency is an autosomal recessive storage disease caused by mutations in the LIPA gene. ...THERAPY: Until recently, different therapeutic options could not prevent development of liver cirrhosis. Patie …
BACKGROUND AND CLINICAL SETTING: Lysosomal acid lipase deficiency is an autosomal recessive storage disease caused by m …
Modeling Steatohepatitis in Humans with Pluripotent Stem Cell-Derived Organoids.
Ouchi R, Togo S, Kimura M, Shinozawa T, Koido M, Koike H, Thompson W, Karns RA, Mayhew CN, McGrath PS, McCauley HA, Zhang RR, Lewis K, Hakozaki S, Ferguson A, Saiki N, Yoneyama Y, Takeuchi I, Mabuchi Y, Akazawa C, Yoshikawa HY, Wells JM, Takebe T. Ouchi R, et al. Cell Metab. 2019 Aug 6;30(2):374-384.e6. doi: 10.1016/j.cmet.2019.05.007. Epub 2019 May 30. Cell Metab. 2019. PMID: 31155493 Free PMC article.
Here, using 11 different healthy and diseased pluripotent stem cell lines, we developed a reproducible method to derive multi-cellular human liver organoids composed of hepatocyte-, stellate-, and Kupffer-like cells that exhibit transcriptomic resemblance to in vivo-derived tissu …
Here, using 11 different healthy and diseased pluripotent stem cell lines, we developed a reproducible method to derive multi-cellular human …
Cholesteryl ester storage disease: protean presentations of lysosomal acid lipase deficiency.
Zhang B, Porto AF. Zhang B, et al. J Pediatr Gastroenterol Nutr. 2013 Jun;56(6):682-5. doi: 10.1097/MPG.0b013e31828b36ac. J Pediatr Gastroenterol Nutr. 2013. PMID: 23403440 Review.
OBJECTIVE: LIPA gene mutations result in deficiency of lysosomal acid lipase and present phenotypically as Wolman disease or cholesteryl ester storage disease (CESD) depending on the level of deficiency. ...Symptoms may present in infancy if the …
OBJECTIVE: LIPA gene mutations result in deficiency of lysosomal acid lipase and present phenotypically as Wolman di …
2,549 results