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Early diagnosis of infantile-onset lysosomal acid lipase deficiency in the advent of available enzyme replacement therapy.
Cohen JL, Burfield J, Valdez-Gonzalez K, Samuels A, Stefanatos AK, Yudkoff M, Pedro H, Ficicioglu C. Cohen JL, et al. Orphanet J Rare Dis. 2019 Aug 14;14(1):198. doi: 10.1186/s13023-019-1129-y. Orphanet J Rare Dis. 2019. PMID: 31412917 Free PMC article.
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 en …
BACKGROUND: Lysosomal acid lipase deficiency (LAL-D) is an autosomal recessive disorder that can present as a severe, infantile form also kn …