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Neuromuscular Disorders, ISSN 0960-8966, 10/2014, Volume 24, Issue 9-10, pp. 801 - 801
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 2014, Volume 24, Issue 9, pp. 801 - 801
Cardiomyopathy (CMP) in childhood is an etiologically heterogeneous group of cardiac disease, including many genetic, metabolic, neuromuscular and... 
Neurology
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 10/2016, Volume 26, pp. S107 - S107
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 10/2016, Volume 26, pp. S165 - S165
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 10/2016, Volume 26, pp. S163 - S164
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 10/2016, Volume 26, pp. S112 - S112
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 2016, Volume 26, pp. S107 - S107
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 2016, Volume 26, pp. S165 - S165
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 2016, Volume 26, pp. S163 - S164
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 2016, Volume 26, pp. S112 - S112
Journal Article
European Journal of Paediatric Neurology, ISSN 1090-3798, 2015, Volume 19, pp. S48 - S48
Introduction Horizontal gaze palsy with progressive scoliosis (HGPPS) is an autosomal recessive disorder characterized by congenital absence of conjugate... 
Pediatrics | Neurology | Genetic disorders | Diagnosis | Magnetic resonance imaging | Scoliosis
Journal Article
Pediatric Neurology, ISSN 0887-8994, 10/2019, Volume 99, pp. 69 - 75
Multiple acyl-CoA dehydrogenase (MADD) deficiency, which is a rare metabolic disorder involving electron transport flavoproteins, has a wide array of clinical... 
Multiple acyl-CoA dehydrogenase deficiency | Riboflavin | Glutaric aciduria type 2 | Lipid storage myopathy | Electron transport flavoprotein | TRANSPORT | ELECTRON-TRANSFER FLAVOPROTEIN | PEDIATRICS | COHORT | MUTATIONS | CLINICAL NEUROLOGY | Pediatric neurology | Analysis | Chronic fatigue syndrome
Journal Article
European Journal of Paediatric Neurology, ISSN 1090-3798, 2014, Volume 18, Issue 6, pp. 811 - 815
Journal Article
European Journal of Paediatric Neurology, ISSN 1090-3798, 2015, Volume 19, pp. S148 - S148
Objective Rett syndrome is the second most common neurodevelopmental genetic disorder in girls. Major clinical features include developmental regression after... 
Pediatrics | Neurology | Rett syndrome | Diagnosis
Journal Article
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