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

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 (ERT). ME...

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Vydáno v:Orphanet J Rare Dis
Hlavní autoři: Cohen, Jennifer L., Burfield, Jessica, Valdez-Gonzalez, Karen, Samuels, Angela, Stefanatos, Arianna K., Yudkoff, Marc, Pedro, Helio, Ficicioglu, Can
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2019
Témata:
Research
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6692931/
https://ncbi.nlm.nih.gov/pubmed/31412917
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-019-1129-y
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