Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants

PURPOSE: The purpose of this study was to enhance understanding of lysosomal acid lipase deficiency (LALD) in infancy. Genet Med 18 5, 452–458. METHODS: Investigators reviewed medical records of infants with LALD and summarized data for the overall population and for patients with and without early...

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Publicado no:Genet Med
Main Authors: Jones, Simon A., Valayannopoulos, Vassili, Schneider, Eugene, Eckert, Stephen, Banikazemi, Maryam, Bialer, Martin, Cederbaum, Stephen, Chan, Alicia, Dhawan, Anil, Di Rocco, Maja, Domm, Jennifer, Enns, Gregory M., Finegold, David, Gargus, J. Jay, Guardamagna, Ornella, Hendriksz, Christian, Mahmoud, Iman G., Raiman, Julian, Selim, Laila A., Whitley, Chester B., Zaki, Osama, Quinn, Anthony G.
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2016
Assuntos:
Original Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4857209/
https://ncbi.nlm.nih.gov/pubmed/26312827
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2015.108
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