Early diagnosis of infantile-onset lysosomal acid lipase deficiency in the advent of available enzyme replacement therapy

Early diagnosis of infantile-onset lysosomal acid lipase deficiency in the advent of available enzyme replacement therapy

Abstract Background Lysosomal acid lipase deficiency (LAL-D) is an autosomal recessive disorder that can present as a severe, infantile form also known as Wolman disease. We sought to determine the outcomes and clinical needs of infants diagnosed with LAL-D, treated with enzyme replacement therapy (...

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Bibliographic Details
Main Authors: Jennifer L. Cohen, Jessica Burfield, Karen Valdez-Gonzalez, Angela Samuels, Arianna K. Stefanatos, Marc Yudkoff, Helio Pedro, Can Ficicioglu
Format: Article
Language:English
Published: BMC 2019-08-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Wolman disease
Enzyme replacement therapy
Lysosomal acid lipase deficiency
Diet
Adrenal insufficiency
Online Access:http://link.springer.com/article/10.1186/s13023-019-1129-y

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