Results 1 to 10 of about 2,984,931 (176)

Lysosomal Acid Lipase Deficiency: Therapeutic Options [PDF]

Drug Design, Development and Therapy, 2020
Gregory M Pastores,1 Derralynn A Hughes2 1Department of Medicine (Genetics)/National Centre for Inherited Metabolic Disorders, Mater Misericordiae University Hospital and University College Dublin, Dublin, Ireland; 2Royal Free London NHS Foundation Trust,
Pastores GM, Hughes DA
doaj   +11 more sources

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   +6 more sources

Progressive macrophage accumulation in lysosomal acid lipase deficiency [PDF]

Molecular Genetics and Metabolism Reports, 2020
Lysosomal acid lipase (LAL) deficiency (LAL-D) is a lysosomal lipid storage disorder in which the accumulation of cholesteryl esters and triglycerides predominantly in hepatocytes and cells of the macrophage-monocyte system is observed.
Patryk Lipiński, Joanna Cielecka-Kuszyk, Anna Bożkiewicz-Kasperczyk, Barbara Perkowska, Elżbieta Jurkiewicz, Anna Tylki-Szymańska   +5 more
doaj   +6 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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Persistent dyslipidemia in treatment of lysosomal acid lipase deficiency [PDF]

Orphanet Journal of Rare Diseases, 2020
Background Lysosomal acid lipase deficiency (LALD) is an autosomal recessive inborn error of lipid metabolism characterized by impaired lysosomal hydrolysis and consequent accumulation of cholesteryl esters and triglycerides.
Amanda Barone Pritchard, Alanna Strong, Can Ficicioglu   +2 more
doaj   +5 more sources

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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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
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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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A rare cause of hepatomegaly in the childhood: Lysosomal acid lipase deficiency [PDF]

The Turkish Journal of Gastroenterology, 2018
Cite this article as: Haznedar P, Kuloğlu Z, Kansu A, Eminoğlu FT. A rare cause of hepatomegaly in the childhood: Lysosomal acid lipase deficiency. Turk J Gastroenterol 2018; 29: 518-9.
Pınar Haznedar, Zarife Kuloğlu, Aydan Kansu, F. Tuba Eminoğlu   +3 more
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