Non-specific accumulation of glycosphingolipids in GNE myopathy 50 years of Newborn Screening

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Bibliographic Details
Published inJournal of inherited metabolic disease Vol. 37; no. 2; pp. 297 - 308
Main Authors PATZEL, Katherine A, YARDENI, Tal, BLERIOT, Yves, GAHL, William A, HUIZING, Marjan, BUTTERS, Terry D, LE POËC-CELIC, Erell, LEOYKLANG, Petcharat, DORWARD, Heidi, ALONZI, Dominic S, KUKUSHKIN, Nikolay V, BIXUE XU, YONGMIN ZHANG, SOLLOGOUB, Matthieu
Format Journal Article
LanguageEnglish
Published Heidelberg Springer 2014
Subjects
Biological and medical sciences
Medical genetics
Medical sciences
Metabolic diseases
Nutrition
Genetics
Metabolic diseases
Accumulation
Genetic disease
Myopathy
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ISSN:0141-8955
1573-2665