Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients

BACKGROUND: A small number of patients affected by Neutral Lipid Storage Diseases (NLSDs: NLSD type M with Myopathy and NLSD type I with Ichthyosis) have been described in various ethnic groups worldwide. However, relatively little is known about the progression and phenotypic variability of the dis...

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Detalles Bibliográficos
Autores principales: Pennisi, Elena Maria, Arca, Marcello, Bertini, Enrico, Bruno, Claudio, Cassandrini, Denise, D’amico, Adele, Garibaldi, Matteo, Gragnani, Francesca, Maggi, Lorenzo, Massa, Roberto, Missaglia, Sara, Morandi, Lucia, Musumeci, Olimpia, Pegoraro, Elena, Rastelli, Emanuele, Santorelli, Filippo Maria, Tasca, Elisabetta, Tavian, Daniela, Toscano, Antonio, Angelini, Corrado
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5427600/
https://www.ncbi.nlm.nih.gov/pubmed/28499397
http://dx.doi.org/10.1186/s13023-017-0646-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5427600/
https://www.ncbi.nlm.nih.gov/pubmed/28499397
http://dx.doi.org/10.1186/s13023-017-0646-9

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