R El Hawary, S Meshaal, AS Eldash, S Lotfy… - Egyptian Journal of …, 2024 - Springer
Lysosomal acid lipase (LAL) deficiency is hyperinflammatory disease caused by the deficiency of the enzyme which hydrolyzes cholesterol esters and triglycerides; thus, there is …
Wolman disease is a lethal rare autosomal recessive disorder defined by the deficiency of acid lipase enzyme. The disease is a lysosomal storage disease. Multiple organs such as …
I Tsomidis, G Notas, A Voumvouraki, D Samonakis… - Fibrosis, 2023 - sciepublish.com
Lysosomal enzymes are implicated in autophagy and senescence. Hepatic lysosomal enzymes have not been studied in Primary Biliary Cholangitis (PBC). We therefore …
NN Kotova, VA Shcherbak… - Pediatrician (St …, 2024 - journals.eco-vector.com
Lysosomal acid lipase deficiency is a rare heterogeneous autosomal recessive heterogeneous genetic disorder whose manifestations often result in severe morbidity and …
Antecedentes: las malformaciones congénitas (MC) son un desafío para la salud pública por su elevada prevalencia y consecuencias a lo largo de la vida. Se han identificado …