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Journal of inherited metabolic disease, ISSN 0141-8955, 1/2014, Volume 37, Issue 1, pp. 125 - 129
Journal Article
Journal of inherited metabolic disease, ISSN 0141-8955, 1/2013, Volume 36, Issue 1, pp. 43 - 53
... & Claudia Nesti & Giulia Tozzi & Vittoria Petruzzella & Fiorella Piemonte & Luigi Bisceglia & Claudio Bruno & Carlo Dionisi-Vici & Adele D’Amico & Fabiana Fattori... 
Human Genetics | Biochemistry, general | Pediatrics | Internal Medicine | Medicine & Public Health | Metabolic Diseases | Endocrinology & Metabolism | Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Seizures - blood | Microcephaly - genetics | Seizures - genetics | Follow-Up Studies | Intellectual Disability - cerebrospinal fluid | Lactic Acid - blood | Humans | Child, Preschool | Magnetic Resonance Imaging - methods | Infant | Male | Cerebellum - enzymology | Olivopontocerebellar Atrophies - metabolism | Spasms, Infantile - genetics | Cerebellum - physiology | Intellectual Disability - genetics | Intellectual Disability - blood | Arginine-tRNA Ligase - genetics | Psychomotor Disorders - genetics | Microcephaly - blood | Mitochondria - genetics | Lennox Gastaut Syndrome | Microcephaly - cerebrospinal fluid | Female | Spasms, Infantile - blood | Infant, Newborn | Neuroimaging - methods | Olivopontocerebellar Atrophies - enzymology | Cerebellum - pathology | Olivopontocerebellar Atrophies - diagnosis | Lactic Acid - cerebrospinal fluid | Olivopontocerebellar Atrophies - genetics | Seizures - cerebrospinal fluid | Mutation | Spasms, Infantile - cerebrospinal fluid | Lactates | Medical research | Nervous system diseases | Neurosciences | Ligases | Genes | Medical genetics | Medicine, Experimental | Development and progression | Genetic aspects | Seizures (Medicine) | Transfer RNA | Cerebellum | Neuroimaging | Neonates | Phosphorylation | Aminoacylation | Epilepsy | Cerebrospinal fluid | Atrophy | Mitochondria | Arginine | Encephalopathy | Fibroblasts | Complementation | Seizures | Hypoplasia | Enzymes | Medical imaging | tRNA Arg | Cortex | Ribonucleic acid--RNA | Microencephaly | Magnetic resonance imaging | Oxidative phosphorylation | Biopsy | Lactic acid | Electron transport | Index Medicus
Journal Article
Journal of inherited metabolic disease, ISSN 1573-2665, 12/2015, Volume 39, Issue 2, pp. 273 - 283
Journal Article