المؤلفون: Elena Maria Pennisi, Marcello Arca, Enrico Bertini, Claudio Bruno, Denise Cassandrini, Adele D’amico, Matteo Garibaldi, Francesca Gragnani, Lorenzo Maggi, Roberto Massa, Sara Missaglia, Lucia Morandi, Olimpia Musumeci, Elena Pegoraro, Emanuele Rastelli, Filippo Maria Santorelli, Elisabetta Tasca, Daniela Tavian, Antonio Toscano, Corrado Angelini, The Italian NLSD Group

المصدر: Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-10 (2017)

مصطلحات موضوعية: NLSD, PNPLA2, CGI58, Myopathy, Lipid metabolism, Natural history, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-017-0646-9; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/98154eee26d648eab05a3ab6d53ffe85

المؤلفون: Pennisi, E. M, Arca, M, Bertini, E, Bruno, C, Cassandrini, D, D'Amico, A, Garibaldi, M, Gragnani, F, Maggi, L, Massa, R, Missaglia, Sara, Morandi, L, Musumeci, O, Pegoraro, E, Rastelli, E, Santorelli, F. M, Tasca, E, Tavian, Daniela, Toscano, A, Angelini, C, Italian, NLSD Group

المصدر: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-10 (2017)

مصطلحات موضوعية: Male, 0301 basic medicine, Cross-sectional study, Myopathy, lcsh:Medicine, Disease, Pharmacology, Gene mutation, 0302 clinical medicine, CGI58, Lipid metabolism, Natural history, NLSD, PNPLA2, Medicine (all), Genetics (clinical), Pharmacology (medical), Genotype, Aged, 80 and over, education.field_of_study, Ichthyosis, General Medicine, Middle Aged, Phenotype, CGI58, myopathy, lipid metabolism, natural history, Italy, Female, Adult, medicine.medical_specialty, Adolescent, Population, Settore MED/26, Lipid Metabolism, Inborn Errors, Young Adult, 03 medical and health sciences, Muscular Diseases, Internal medicine, medicine, Humans, Muscle, Skeletal, education, Settore BIO/10 - BIOCHIMICA, Genetic Association Studies, Aged, Retrospective Studies, business.industry, Research, lcsh:R, Retrospective cohort study, Lipase, Ichthyosiform Erythroderma, Congenital, medicine.disease, Respiration, Artificial, Cross-Sectional Studies, 030104 developmental biology, Mutation, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47fe60c8bf07e5feeffb125fd60f9a9a
https://doi.org/10.1186/s13023-017-0646-9