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Targeted gene panel screening is an effective tool to ident..:
Savarese, Marco
;
Torella, Annalaura
;
Musumeci, Olimpia
...
10.1016/j.nmd.2018.03.011. , 2019
Link:
http://hdl.handle.net/10138/300751
RT Journal T1
Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease
UL https://suche.suub.uni-bremen.de/peid=base-ftunivhelsihelda:oai:helda.helsinki.fi:10138_300751&Exemplar=1&LAN=DE A1 Savarese, Marco A1 Torella, Annalaura A1 Musumeci, Olimpia A1 Angelini, Corrado A1 Astrea, Guja A1 Bello, Luca A1 Bruno, Claudio A1 Comi, Giacomo Pietro A1 Di Fruscio, Giuseppina A1 Piluso, Giulio A1 Di Iorio, Giuseppe A1 Ergoli, Manuela A1 Esposito, Gaia A1 Fanin, Marina A1 Farina, Olimpia A1 Fiorillo, Chiara A1 Garofalo, Arcomaria A1 Giugliano, Teresa A1 Magri, Francesca A1 Minetti, Carlo A1 Moggio, Maurizio A1 Passamano, Luigia A1 Pegoraro, Elena A1 Picillo, Ester A1 Sampaolo, Simone A1 Santorelli, Filippo Maria A1 Semplicini, Claudio A1 Udd, Bjarne A1 Toscano, Antonio A1 Politano, Luisa A1 Nigro, Vincenzo PB Elsevier Scientific Publ. Co YR 2019 K1 GAA K1 Late onset Pompe disease (LOPD) K1 Metabolic myopathies K1 LGMD K1 HyperCKemia K1 Gene panels K1 GLYCOGEN-STORAGE-DISEASE K1 GIRDLE MUSCULAR-DYSTROPHY K1 ACID MALTASE DEFICIENCY K1 ALPHA-GLUCOSIDASE K1 MUSCLE DISORDERS K1 DIAGNOSIS K1 MUTATIONS K1 MYOPATHIES K1 INFANTILE K1 Neurosciences K1 Neurology and psychiatry JF 10.1016/j.nmd.2018.03.011 LK http://hdl.handle.net/10138/300751 DO http://hdl.handle.net/10138/300751 SF ELIB - SuUB Bremen
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