scholarly journals A kinetic assay of total lipase activity for detecting lysosomal acid lipase deficiency (LAL‐D) and the molecular characterization of 18 LAL‐D patients from Russia

JIMD Reports ◽  
2019 ◽  
Vol 48 (1) ◽  
pp. 75-82
Author(s):  
Nikolay Mayanskiy ◽  
Ekaterina Brzhozovskaya ◽  
Alexander Pushkov ◽  
Tatiana Strokova ◽  
Nikolay Vlasov ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Lipase Activity ◽  
Acid Lipase ◽  
Kinetic Assay ◽  
Lysosomal Acid ◽  
Lysosomal Acid Lipase ◽  
Lysosomal Acid Lipase Deficiency

scholarly journals Correction to: Long-term survival with sebelipase alfa enzyme replacement therapy in infants with rapidly progressive lysosomal acid lipase deficiency: final results from 2 open-label studies

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Suresh Vijay ◽  
Anais Brassier ◽  
Arunabha Ghosh ◽  
Simona Fecarotta ◽  
Florian Abel ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Acid Lipase ◽  
Open Label ◽  
Term Survival ◽  
Lysosomal Acid ◽  
Enzyme Replacement ◽  
Lysosomal Acid Lipase ◽  
Lysosomal Acid Lipase Deficiency

An amendment to this paper has been published and can be accessed via the original article.

scholarly journals The Frequency of Lysosomal Acid Lipase Deficiency in Children With Unexplained Liver Disease

2019 ◽  
Vol 68 (3) ◽  
pp. 371-376
Author(s):  
Zarife Kuloglu ◽  
Aydan Kansu ◽  
Suna Selbuz ◽  
Ayhan G. Kalaycı ◽  
Gülseren Şahin ◽  
...  
Keyword(s):  
Liver Disease ◽  
Acid Lipase ◽  
Lysosomal Acid ◽  
Lysosomal Acid Lipase ◽  
Lysosomal Acid Lipase Deficiency
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