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A Case of Lysosomal Acid Lipase Deficiency Confirmed by Response to Sebelipase Alfa Therapy

Lysosomal acid lipase (LAL) deficiency, or cholesterol ester storage disease, is a disorder affecting the breakdown of cholesterol esters and triglycerides within lysosomes. Clinical findings include hepatomegaly, hepatic dysfunction, and dyslipidemia, with a wide range of phenotypic variability and...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:J Pediatr Gastroenterol Nutr
Egile Nagusiak: Shen, Joseph J., Davis, Jessica L., Hong, Xinying, Laningham, Fred H., Gelb, Michael H., Kim, Grace E.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2020
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC8045466/
https://ncbi.nlm.nih.gov/pubmed/32740531
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MPG.0000000000002870
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