Results 1 to 10 of about 2,600,769 (206)

Distinguishing Lysosomal Acid Lipase Deficiency From Familial Hypercholesterolemia [PDF]

JACC: Case Reports, 2023
Lysosomal acid lipase deficiency (LAL-D) is underrecognized because it manifests clinically with lipid and lipoprotein values similar to those observed in heterozygous familial hypercholesterolemia (FH).
Sohum Sheth, BS, Peter P. Toth, MD, PhD, Seth J. Baum, MD, Monica Aggarwal, MD   +3 more
doaj   +4 more sources

Lysosomal acid lipase deficiency in pediatric patients: a scoping review [PDF]

Jornal de Pediatria, 2022
Objective: Lysosomal acid lipase deficiency (LAL-D) is an underdiagnosed autosomal recessive disease with onset between the first years of life and adulthood. Early diagnosis is crucial for effective therapy and long-term survival.
Camila da Rosa Witeck, Anne Calbusch Schmitz, Júlia Meller Dias de Oliveira, André Luís Porporatti, Graziela De Luca Canto, Maria Marlene de Souza Pires   +5 more
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Clinical guidelines for the management of children with lysosomal acid lipase deficiency

Педиатрическая фармакология, 2023
Lysosomal acid lipase deficiency is s a rare hereditary enzymopathy. The article presents epidemiological data and features of etiopathogenesis of two phenotypic forms of lysosomal acid lipase deficiency — Wolman disease and cholesterol ester storage ...
Inga V. Anisimova, Marina B. Albegova, Madlena E. Bagaeva, Galina V. Baidakova, Aleksandr A. Baranov, Nato D. Vashakmadze, Elena A. Vishneva, Olga S. Gundobina, Anna V. Degtiareva, Marat V. Ezhov, Maria S. Zharkova, Nataliia V. Zhurkova, Ekaterina Yu. Zaharova, Vladimir T. Ivashkin, Elena A. Kamenets, Sergey I. Kutzev, Alla E. Lavrova, Irina A. Matinian, Svetlana V. Mikhailova, Leyla S. Namazova-Baranova, Irina E. Pashkova, Elena E. Petriaykina, Tatiana M. Pervunina, Nataliia L. Pechatnikova, Nelia S. Pogosian, Svetlana A. Repina, Lilia R. Selimzianova, Tamara A. Skvortsova, Tatiana V. Strokova, Dmitriy M. Subbotin, Andrey N. Surkov, Elena L. Tumanova, Ekaterina G. Tzimbalova   +32 more
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Liver-specific gene therapy based on self-complementary adeno-associated virus for lysosomal acid lipase deficiency [PDF]

Frontiers in Pharmacology
IntroductionLysosomal acid lipase deficiency is a rare, autosomal-recessive disorder caused by inactivating mutations of the lysosomal acid lipase gene and accumulation of cholesteryl esters and triglycerides in lysosomes.
Ruolan Zhang, Ruolan Zhang, Jing Lou, Jing Lou, Jing Lou, Zheng Jin, Yanmei Ou, Ting He, Hezhi Qu, Yanqun Yang, Xiao Qu   +10 more
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Lysosomal acid lipase promotes endothelial proliferation in cold-activated adipose tissue [PDF]

Adipocyte, 2022
Oxidative tissues such as brown adipose tissue and muscle internalize large amounts of circulating lipids and glucose as energy source. Endothelial cells (ECs) provide a platform for regulated transport and processing of blood-borne nutrients.
Alexander W. Fischer, Michelle Y. Jaeckstein, Joerg Heeren   +2 more
doaj   +2 more sources

Overview of pediatric and adult lysosomal acid lipase deficiency: expert recommendations from a Gulf cooperation council working group [PDF]

Orphanet Journal of Rare Diseases
Background Lysosomal acid lipase deficiency (LAL-D) is an autosomal recessive ultrarare lysosomal storage disease caused by pathogenic/likely pathogenic variants in the LIPA gene. The age of onset and progression rate can significantly vary, possibly due
Moeenaldeen AlSayed, Khalid Al Rasadi, Noura S. AlDhaheri, Abdulrahman Al-Hussaini, Ali Awaji, Amal Al Tenaiji, Khalid Ibrahim Bzeizi, Mohamad Miqdady, Nadia Al Hashmi, Majid Alfadhel   +9 more
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Early Discovery of Children With Lysosomal Acid Lipase Deficiency With the Universal Familial Hypercholesterolemia Screening Program [PDF]

Frontiers in Genetics, 2022
Lysosomal acid lipase deficiency (LAL-D) is an autosomal recessive lysosomal storage disorder, caused by homozygous or compound heterozygous pathogenic variants in the LIPA gene.
Ursa Sustar, Ursa Sustar, Urh Groselj, Urh Groselj, Urh Groselj, Katarina Trebusak Podkrajsek, Katarina Trebusak Podkrajsek, Matej Mlinaric, Jernej Kovac, Martin Thaler, Ana Drole Torkar, Ana Drole Torkar, Ajda Skarlovnik, Tadej Battelino, Tadej Battelino, Tinka Hovnik, Tinka Hovnik   +16 more
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Cholesterol Ester Storage Disease in Two Field Spaniels With Lysosomal Acid Lipase Deficiency [PDF]

Journal of Veterinary Internal Medicine
Cholesterol ester storage disease (CESD) is a rare genetic lysosomal storage disorder resulting from lower lysosomal acid lipase (LAL) activity. LAL is an essential enzyme required in intracellular lipid metabolism, and deficiency results in disability ...
Pernilla Syrjä, Mathilda M. H. Ylenius, Matilda Kråkström, Alex M. Dickens, Elina Rautala, Anna Huupponen, Anders Eriksson, Sanna J. Viitanen   +7 more
doaj   +2 more sources

Clinical case of lysosomic acid lipase deficiency – cholesterol ethers accumulation diseases

Лечащий Врач, 2022
Lysosomal acid lipase deficiency is a rare hereditary fermentopathy. Cholesterol ester accumulation disease – one of the two forms of lysosomal acid lipase deficiency – is a hereditary autosomal recessive lysosomal accumulation disease caused by ...
E. V. Savelieva, A. P. Pakhomov, A. A. Vyalkova, V. V. Tyrsin, I. V. Zorin, E. V. Azarova, A. I. Meshcheryakova   +6 more
doaj   +1 more source

Drosophila Lipase 3 Mediates the Metabolic Response to Starvation and Aging

Frontiers in Aging, 2022
The human LIPA gene encodes for the enzyme lysosomal acid lipase, which hydrolyzes cholesteryl ester and triacylglycerol. Lysosomal acid lipase deficiency results in Wolman disease and cholesteryl ester storage disease.
Lea Hänschke, Christoph Heier, Christoph Heier, Christoph Heier, Santiago José Maya Palacios, Huseyin Erdem Özek, Christoph Thiele, Reinhard Bauer, Ronald P. Kühnlein, Ronald P. Kühnlein, Ronald P. Kühnlein, Margret H. Bülow   +11 more
doaj   +1 more source