Severe cardiomyopathy in a young patient with complete deficiency of adipose triglyceride lipase due to a novel mutation in PNPLA2 gene.
about
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.Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients.Generation of induced Pluripotent Stem Cells as disease modelling of NLSDMMuscle MRI in neutral lipid storage disease (NLSD).Novel PNPLA2 gene mutation in a child causing neutral lipid storage disease with myopathy
P2860
Severe cardiomyopathy in a young patient with complete deficiency of adipose triglyceride lipase due to a novel mutation in PNPLA2 gene.
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年論文
@yue
2016年論文
@zh-hant
2016年論文
@zh-hk
2016年論文
@zh-mo
2016年論文
@zh-tw
2016年论文
@wuu
2016年论文
@zh
2016年论文
@zh-cn
name
Severe cardiomyopathy in a you ...... novel mutation in PNPLA2 gene.
@en
Severe cardiomyopathy in a you ...... novel mutation in PNPLA2 gene.
@nl
type
label
Severe cardiomyopathy in a you ...... novel mutation in PNPLA2 gene.
@en
Severe cardiomyopathy in a you ...... novel mutation in PNPLA2 gene.
@nl
prefLabel
Severe cardiomyopathy in a you ...... novel mutation in PNPLA2 gene.
@en
Severe cardiomyopathy in a you ...... novel mutation in PNPLA2 gene.
@nl
P2093
P2860
P1476
Severe cardiomyopathy in a you ...... novel mutation in PNPLA2 gene.
@en
P2093
Daniela Tavian
Daniele Andreini
Denise Cassandrini
Franco Salerno
Lucia Morandi
Maria Barbara Pasanisi
Sara Missaglia
Stefania Farina
P2860
P304
P356
10.1016/J.IJCARD.2016.01.137
P407
P577
2016-01-09T00:00:00Z