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Journal of the Neurological Sciences, ISSN 0022-510X, 2013, Volume 338, Issue 1, pp. 107 - 111
Journal Article
Current Opinion in Neurology, ISSN 1350-7540, 10/2008, Volume 21, Issue 5, pp. 601 - 606
Purpose of review The aim of this review is to provide an update on disorders of lipid metabolism affecting skeletal muscle exclusively or predominantly and to... 
Neutral lipid storage disorder with myopathy | Carnitine palmitoyltransferase deficiency type II | Chanarin-Dorfman syndrome | Very longchain acyl-coenzyme a dehydrogenase deficiency | Coenzyme Q10 | Lipid myopathy | very long-chain acyl-coenzyme A dehydrogenase deficiency | ADIPOSE TRIGLYCERIDE LIPASE | coenzyme Q10 | neutral lipid storage disorder with myopathy | lipid myopathy | II CPT-II | CRYSTAL-STRUCTURE | CHANARIN-DORFMAN-SYNDROME | NEUROSCIENCES | CLINICAL NEUROLOGY | ACYL-COA DEHYDROGENASE | COENZYME-Q10 DEFICIENCY | DISEASE | VLCAD DEFICIENCY | CARNITINE TRANSPORT | MUTATIONS | carnitine palmitoyltransferase deficiency type II | Lipid Metabolism, Inborn Errors - genetics | Electron Transport Complex I - deficiency | Humans | Ubiquinone - analogs & derivatives | Ubiquinone - deficiency | Muscular Diseases - pathology | Muscle, Skeletal - physiology | Triglycerides - metabolism | Electron-Transferring Flavoproteins - deficiency | Lipid Metabolism, Inborn Errors - physiopathology | Lipid Metabolism, Inborn Errors - therapy | Acyl-CoA Dehydrogenase - deficiency | Carnitine - deficiency | Lipid Metabolism, Inborn Errors - pathology | Muscular Diseases - physiopathology | Muscle, Skeletal - pathology | Muscular Diseases - genetics | Carnitine O-Palmitoyltransferase - deficiency | Fatty Acids - metabolism | Muscular Diseases - therapy
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 02/2019, Volume 64, Issue 2, pp. 87 - 98
Journal Article
International Journal of Molecular Sciences, ISSN 1661-6596, 01/2017, Volume 18, Issue 1, pp. 82 - 82
Journal Article
Journal of Clinical Neuroscience, ISSN 0967-5868, 01/2019, Volume 59, pp. 32 - 36
Journal Article
Journal Article
Molecular Genetics and Metabolism Reports, ISSN 2214-4269, 06/2018, Volume 15, pp. 69 - 70
We discuss two adult siblings who presented with symptoms of myalgia and rhabdomyolysis following exercise with myoglobinuria; genetic testing confirmed... 
Autosomal recessive | CPT II deficiency | Dietary advice | Rhabdomyolysis | Genetic counselling | Myoglobinuria | Myopathy | MUTATION | GENETICS & HEREDITY | BIOCHEMICAL-ANALYSIS
Journal Article
Journal of Clinical and Diagnostic Research, ISSN 2249-782X, 10/2015, Volume 9, Issue 10, pp. SD01 - SD02
Carnitine palmitoyltransferase II (CPTII) deficiency is a rare disorder of mitochondrial fatty acid oxidation with autosomal recessive mode of inheritance.... 
Fatty acid oxidation | CPT II gene | Non ketotic hypoglycaemia | Tandem mass spectrometry | Paediatrics Section
Journal Article
Molecular Genetics and Metabolism Reports, ISSN 2214-4269, 06/2017, Volume 11, Issue C, pp. 69 - 71
The early-onset form of carnitine palmitoyltransferase (CPT) II deficiency has severe outcomes; patients typically die during the newborn period. We report a... 
Neonatal-onset | Continuous hemodialysis | CPT II deficiency | Prolonged survival | Hyperammonemia | GENETICS & HEREDITY
Journal Article