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1دورية أكاديمية
المؤلفون: A. Maguolo, G. Rodella, A. Dianin, R. Nurti, I. Monge, E. Rigotti, G. Cantalupo, L. Salviati, S. Tucci, F. Pellegrini, G. Molinaro, F. Lupi, P. Tonin, A. Pasini, N. Campostrini, F. Ion Popa, F. Teofoli, M. Vincenzi, M. Camilot, G. Piacentini, A. Bordugo
المصدر: Molecular Genetics and Metabolism Reports, Vol 24, Iss , Pp 100632- (2020)
مصطلحات موضوعية: Fatty acid oxidation defects, Expanded newborn screening, Enzymatic activity, Synergistic heterozygosity, Hypoglycaemia, Myopathy, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
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2
المؤلفون: Marta Camilot, R. Nurti, Gaetano Cantalupo, Alice Maguolo, F. Lupi, Erika Rigotti, Giorgio Piacentini, Francesca Teofoli, Andrea Pasini, F. Ion Popa, Monica Vincenzi, Paola Tonin, Giulia Rodella, Grazia Molinaro, Leonardo Salviati, A. Dianin, F. Pellegrini, Natascia Campostrini, A. Bordugo, I. Monge, Sara Tucci
المصدر: Molecular Genetics and Metabolism Reports, Vol 24, Iss, Pp 100632-(2020)
Molecular Genetics and Metabolism Reportsمصطلحات موضوعية: FAODs, fatty acid oxidation disorders, Pediatrics, MCADD, medium-chain acyl-CoA dehydrogenase deficiency, MADD, multiple acyl-CoA dehydrogenase deficiency, ALT, TFPD, trifunctional protein deficiency, polymerase chain reaction, Myopathy, DBS, medium-chain acyl-CoA dehydrogenase deficiency, CUD, Mitochondrial fatty acid, CACTD, Expanded newborn screening, NBS, newborn screening, DNA, Deoxyribonucleic acid, 0302 clinical medicine, Endocrinology, NBS, PCR, polymerase chain reaction, carnitine uptake defect, Genotype, very-long-chain acyl-CoA dehydrogenase deficiency, SCADD, Medicine, FAODs, lcsh:QH301-705.5, LCHADD, next generation sequencing, trifunctional protein deficiency, SCADD, short chain acyl-CoA dehydrogenase deficiency, 0303 health sciences, DBS, dried blood spots, Synergistic heterozygosity, lcsh:R5-920, medicine.diagnostic_test, Deoxyribonucleic acid, LCHADD, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Incidence (epidemiology), 030305 genetics & heredity, PCR, CK, NGS, dried blood spots, medicine.symptom, VLCADD, AST, Aspartate aminotransferase, lcsh:Medicine (General), Research Paper, medicine.medical_specialty, fatty acid oxidation disorders, Urinary system, Enzymatic activity, Fatty acid oxidation defects, Hypoglycaemia, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, MCADD, Aspartate aminotransferase, carnitine palmitoyl-CoA transferase 1/2 deficiency, short chain acyl-CoA dehydrogenase deficiency, 03 medical and health sciences, multiple acyl-CoA dehydrogenase deficiency, CACTD, carnitine-acylcarnitine translocase deficiency, TFPD, tandem mass spectrometry, Genetics, CUD, carnitine uptake defect, CPT1/2 D, carnitine palmitoyl-CoA transferase 1/2 deficiency, Molecular Biology, AST, Genetic testing, Newborn screening, business.industry, creatine kinase, newborn screening, ALT, Alanine aminotransferase, CPT1/2 D, MADD, NGS, next generation sequencing, carnitine-acylcarnitine translocase deficiency, DNA, medicine.disease, lcsh:Biology (General), VLCADD, very-long-chain acyl-CoA dehydrogenase deficiency, TMS, Alanine aminotransferase, TMS, tandem mass spectrometry, business, 030217 neurology & neurosurgery, CK, creatine kinase
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3دورية أكاديمية
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