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Molecular genetics and metabolism, ISSN 1096-7192, 12/2015, Volume 116, Issue 4, pp. 231 - 241
Newborn screening follow-up | Second-tier analysis | Carnitine analysis | Quantitative acylcarnitine analysis | Metabolism research | Endocrinology & Metabolism | Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Lipid Metabolism, Inborn Errors - urine | Betaine - cerebrospinal fluid | Carbon-Carbon Ligases - blood | Chromatography, High Pressure Liquid - methods | Chromatography, High Pressure Liquid - standards | Humans | Amino Acid Metabolism, Inborn Errors - cerebrospinal fluid | Male | Carbon-Carbon Ligases - cerebrospinal fluid | Neonatal Screening | Isomerism | Acyl-CoA Dehydrogenase - urine | Amino Acid Metabolism, Inborn Errors - diagnosis | Urea Cycle Disorders, Inborn - urine | Amino Acid Metabolism, Inborn Errors - urine | Sensitivity and Specificity | Acetyl-CoA C-Acyltransferase - urine | Acetyl-CoA C-Acyltransferase - blood | Carnitine - urine | Carnitine - cerebrospinal fluid | Female | Betaine - blood | Betaine - urine | Carbon-Carbon Ligases - deficiency | Carnitine - analogs & derivatives | Urea Cycle Disorders, Inborn - blood | Infant, Newborn | Acetyl-CoA C-Acyltransferase - cerebrospinal fluid | Lipid Metabolism, Inborn Errors - cerebrospinal fluid | Reproducibility of Results | Tandem Mass Spectrometry - standards | Lipid Metabolism, Inborn Errors - blood | Lipid Metabolism, Inborn Errors - diagnosis | Carnitine - blood | Carbon-Carbon Ligases - urine | Acyl-CoA Dehydrogenase - cerebrospinal fluid | Amino Acid Metabolism, Inborn Errors - blood | Betaine - analogs & derivatives | Urea Cycle Disorders, Inborn - diagnosis | Acyl-CoA Dehydrogenase - blood | Acyl-CoA Dehydrogenase - deficiency | Acetyl-CoA C-Acyltransferase - deficiency | Urea Cycle Disorders, Inborn - cerebrospinal fluid | Analysis | Carnitine | Index Medicus | metabolism research | second-tier analysis | carnitine analysis | newborn screening follow-up
Journal Article
Journal Article
Journal Article
Journal Article
Journal Article
Metabolic brain disease, ISSN 0885-7490, 12/2017, Volume 32, Issue 6, pp. 2063 - 2071
Biochemistry, general | Acetoacetyl-CoA thiolase (β-KT) | Neurology | Neurosciences | Biomedicine | Hydroxysteroid (17β) dehydrogenase 10 (HSD10) | Metabolic Diseases | Oncology | Mutation | Isoleucine metabolism | Endocrinology & Metabolism | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Acetyl-CoA C-Acyltransferase - genetics | Brain - diagnostic imaging | Humans | Child, Preschool | Epilepsy - metabolism | Infant | Male | 3-Hydroxyacyl CoA Dehydrogenases - genetics | Amino Acid Metabolism, Inborn Errors - diagnosis | Amino Acid Metabolism, Inborn Errors - metabolism | Mental Retardation, X-Linked - genetics | Amino Acid Metabolism, Inborn Errors - genetics | China | Mental Retardation, X-Linked - diagnosis | Epilepsy - genetics | Female | Retrospective Studies | Dyskinesias - genetics | Diagnosis, Differential | Dyskinesias - diagnostic imaging | Models, Molecular | Dyskinesias - metabolism | Isoleucine - metabolism | Acetyl-CoA C-Acetyltransferase - genetics | Amino Acid Metabolism, Inborn Errors - diagnostic imaging | Dyskinesias - diagnosis | Acetyl-CoA C-Acyltransferase - metabolism | Mental Retardation, X-Linked - diagnostic imaging | Acetyl-CoA C-Acyltransferase - deficiency | Mental Retardation, X-Linked - metabolism | Enzymes | Medical colleges | Metabolites | Genes | Physiological aspects | Genetic aspects | Glutamine | Urine | Degradation | Mitochondria | Pathogenesis | Thiolase | Disorders | Metabolism | Patients | Deoxyribonucleic acid--DNA | Isoleucine | Index Medicus
Journal Article