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| Title : Late onset of neutral lipid storage disease due to novel PNPLA2 mutations causing total loss of lipase activity in a patient with myopathy and slight cardiac involvement - Missaglia_2017_Neuromuscul.Disord_27_481 |
| Author(s) : Missaglia S , Maggi L , Mora M , Gibertini S , Blasevich F , Agostoni P , Moro L , Cassandrini D , Santorelli FM , Gerevini S , Tavian D |
| Ref : Neuromuscular Disorders , 27 :481 , 2017 |
| Abstract : Missaglia_2017_Neuromuscul.Disord_27_481 |
| ESTHER : Missaglia_2017_Neuromuscul.Disord_27_481 |
| PubMedSearch : Missaglia_2017_Neuromuscul.Disord_27_481 |
| PubMedID: 28258942 |
| Title : Severe cardiomyopathy in a young patient with complete deficiency of adipose triglyceride lipase due to a novel mutation in PNPLA2 gene - |
| Author(s) : Pasanisi MB , Missaglia S , Cassandrini D , Salerno F , Farina S , Andreini D , Agostoni P , Morandi L , Mora M , Tavian D |
| Ref : Int J Cardiol , 207 :165 , 2016 |
| PubMedID: 26803235 |