Early diagnosis of infantile-onset lysosomal acid lipase deficiency in the advent of available enzyme replacement therapy
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 ...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Jennifer L. Cohen, Jessica Burfield, Karen Valdez-Gonzalez, Angela Samuels, Arianna K. Stefanatos, Marc Yudkoff, Helio Pedro and Can Ficicioglu Tags: Research Source Type: research
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