A rare case of lysosomal acid lipase deficiency diagnosed by endoscopy

2021 ◽  
Author(s):  
Luíza Dias Torres ◽  
Danielle Queiroz Bonilha ◽  
Rafael Guedes Diaz ◽  
Rita Barbosa de Carvalho ◽  
Ciro Garcia Montes
Keyword(s):  
Rare Case ◽  
Acid Lipase ◽  
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

scholarly journals Sebelipase alfa over 52weeks reduces serum transaminases, liver volume and improves serum lipids in patients with lysosomal acid lipase deficiency

2014 ◽  
Vol 61 (5) ◽  
pp. 1135-1142 ◽  
Author(s):  
Vassili Valayannopoulos ◽  
Vera Malinova ◽  
Tomas Honzík ◽  
Manisha Balwani ◽  
Catherine Breen ◽  
...  
Keyword(s):  
Serum Lipids ◽  
Liver Volume ◽  
Acid Lipase ◽  
Lysosomal Acid ◽  
Lysosomal Acid Lipase ◽  
Lysosomal Acid Lipase Deficiency ◽  
Serum Transaminases

scholarly journals Lysosomal Acid Lipase Deficiency, a Rare Pathology: The First Pediatric Patient Reported in Colombia

2018 ◽  
Vol 19 ◽  
pp. 669-672 ◽  
Author(s):  
Verónica Botero ◽  
Victor H. Garcia ◽  
Catalina Gomez-Duarte ◽  
Ana M. Aristizabal ◽  
Ana M. Arrunategui ◽  
...  
Keyword(s):  
Pediatric Patient ◽  
Acid Lipase ◽  
Lysosomal Acid ◽  
Lysosomal Acid Lipase ◽  
Lysosomal Acid Lipase Deficiency ◽  
Patient Reported
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