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International Journal of Cardiology, ISSN 0167-5273, 04/2019, Volume 280, pp. 162 - 162
Journal Article
Italian journal of pediatrics, ISSN 1824-7288, 06/2019, Volume 45, Issue 1, pp. 71 - 1
The original article contains an unintended omission of a statement of competing interests. As such, the authors would like to declare the following complete... 
Medical screening | Mucopolysaccharidosis
Journal Article
JAMA Neurology, ISSN 2168-6149, 09/2013, Volume 70, Issue 9, p. 1177
  Mendelian forms of complex I deficiency are usually associated with fatal infantile encephalomyopathy. Application of "MitoExome" sequencing (deep sequencing... 
Proteins | Mitochondria | Genes | Medical treatment | Mutation
Journal Article
Molecular Therapy, ISSN 1525-0016, 11/2014, Volume 22, Issue 11, p. 2004
  Enzyme replacement therapy is currently the only approved treatment for Pompe disease, due to acid α-glucosidase deficiency. Clinical efficacy of this... 
Journal Article
06/2013
We review the first complete calculation performed within the Four Dimensional Regularization scheme (FDR), the recently-proposed approach for addressing... 
Physics - High Energy Physics - Phenomenology
Journal Article
PLoS ONE, ISSN 1932-6203, 03/2016, Volume 11, Issue 3, p. e0151445
Journal Article
Journal Article
PLoS ONE, ISSN 1932-6203, 10/2014, Volume 9, Issue 10, p. e108205
Journal Article
PLoS ONE, ISSN 1932-6203, 01/2014, Volume 9, Issue 1, p. e83400
Journal Article
Progress in Pediatric Cardiology, ISSN 1058-9813, 12/2018, Volume 51, pp. 24 - 30
Pediatric cardiomyopathies, such us dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), restrictive cardiomyopathy (RCM), left ventricular... 
Pediatrics | Cardiomyopathies | Genetics | Sarcomere | Metabolic disorders | Children | Health aspects | Mortality | Genetic screening | Cells
Journal Article
Journal of Neurology, ISSN 0340-5354, 5/2015, Volume 262, Issue 5, pp. 1301 - 1309
Journal Article
Journal of Neurology, ISSN 0340-5354, 12/2012, Volume 259, Issue 12, pp. 2699 - 2706
Journal Article