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Journal of Gastrointestinal Surgery, ISSN 1091-255X, 03/2019, Volume 23, Issue 3, pp. 601 - 602
Journal Article
Journal Article
Jornal de Pediatria, ISSN 0021-7557, 09/2019, Volume 95, Issue 5, pp. 552 - 558
To describe the demographic, clinical, laboratory and molecular characteristics of patients with lysosomal acid lipase deficiency. A retrospective review of... 
Pediatrics | Liver failure | Doenças do armazenamento lisossomal | Lysosomal storage diseases | Metabolic diseases | Insuficiência hepática | Doenças metabólicas | Pediatria
Journal Article
Atherosclerosis, ISSN 0021-9150, 11/2018, Volume 278, pp. 174 - 179
Lysosomal acid lipase deficiency (LAL-D) is a lysosomal storage disorder. In severe cases, it can cause life-threatening organ failure due to lipid substrates... 
Wolman disease | Screening | LAL-D | Lysosomal acid lipase deficiency | Dyslipidemia | Children | Cholesteryl ester storage disease | DIAGNOSIS | CARDIAC & CARDIOVASCULAR SYSTEMS | LIVER | ESTER STORAGE DISEASE | PERIPHERAL VASCULAR DISEASE | Algorithms | Low density lipoproteins | Analysis | Children's hospitals | Medical screening | Data mining | Lipase | Diseases
Journal Article
Journal of Pediatric Gastroenterology and Nutrition, ISSN 0277-2116, 12/2018, Volume Publish Ahead of Print, Issue 3, pp. 371 - 376
OBJECTIVES:Evidence suggests that lysosomal acid lipase deficiency (LAL-D) is often underdiagnosed because symptoms may be nonspecific. We aimed to investigate... 
NUTRITION & DIETETICS | WOLMAN | children | liver | ESTER STORAGE DISEASE | PEDIATRICS | GASTROENTEROLOGY & HEPATOLOGY | lysosomal acid lipase deficiency | Liver diseases | Lipid metabolism disorders | Research | Pediatric research
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 05/2019, Volume 42, Issue 3, pp. 509 - 518
Journal Article
Journal Article
Journal of Hepatology, ISSN 0168-8278, 2014, Volume 61, Issue 5, pp. 1135 - 1142
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 09/2015, Volume 373, Issue 11, pp. 1071 - 1073
There are more than 50 different lysosomal storage diseases, genetic disorders characterized by lysosomal accumulation of substrate. 1 Phenotypes vary widely,... 
MEDICINE, GENERAL & INTERNAL | ESTER STORAGE DISEASE | MODEL | Sterol Esterase - therapeutic use | Female | Male | Humans | Wolman Disease - drug therapy | Metabolism, Inborn errors of | Clinical trials | Enzymes | Care and treatment | Usage | Health aspects | Phenotypes | Genetic disorders | Lysosomes | Lysosomal storage diseases | Lipids | Lipase | Macrophages | Drug therapy | Cells
Journal Article
Journal of Hepatology, ISSN 0168-8278, 01/2019, Volume 70, Issue 1, pp. 142 - 150
Journal Article
ORPHANET JOURNAL OF RARE DISEASES, ISSN 1750-1172, 08/2019, Volume 14, Issue 1, pp. 198 - 8
Background Lysosomal acid lipase deficiency (LAL-D) is an autosomal recessive disorder that can present as a severe, infantile form also known as Wolman... 
Wolman disease | WOLMAN-DISEASE | MEDICINE, RESEARCH & EXPERIMENTAL | SPLEEN | Adrenal insufficiency | Diet | Enzyme replacement therapy | Lysosomal acid lipase deficiency | GENETICS & HEREDITY | CELL TRANSPLANTATION | Infants (Newborn) | Enzymes | Care and treatment | Triglycerides | Infants | Hypothyroidism | Lipase | Cardiology | Health aspects | Diseases
Journal Article
Annals of Hepatology, ISSN 1665-2681, 2019, Volume 18, Issue 4, pp. 646 - 650
AbstractIntroduction and ObjectivesLysosomal acid lipase deficiency (LAL-D) is an autosomal recessive disease caused by mutations in the LIPA gene, located on... 
Gastroenterology and Hepatology | LIPA gene | WOLMAN-DISEASE | Pediatrics | Lysosomal acid lipase deficiency | Liver | ESTER STORAGE DISEASE | Lysosomal disease | GASTROENTEROLOGY & HEPATOLOGY | EXPRESSION
Journal Article
Journal Article
Revista de Gastroenterologia de Mexico, ISSN 0375-0906, 01/2018, Volume 83, Issue 1, pp. 51 - 61
Introduction Lysosomal acid lipase deficiency (LAL-D) causes progressive cholesteryl ester and triglyceride accumulation in the lysosomes of hepatocytes and... 
Lysosomal acid lipase | Hepatomegaly | Cholesteryl ester storage disease | Lysosomal acid lipase deficiency | Dyslipidemia
Journal Article