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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Original Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4857209/
https://www.ncbi.nlm.nih.gov/pubmed/26312827
http://dx.doi.org/10.1038/gim.2015.108

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