المؤلفون: Angelika Schoster, Déborah Mathis, Jörn Oliver Sass, Claudia Graubner

المساهمون: University of Zurich, Schoster, Angelika

المصدر: Mathis, Déborah; Sass, Jörn Oliver; Graubner, Claudia; Schoster, Angelika (2021). Diagnosis of atypical myopathy based on organic acid and acylcarnitine profiles and evolution of biomarkers in surviving horses. Molecular genetics and metabolism reports, 29, p. 100827. Elsevier 10.1016/j.ymgmr.2021.100827 <http://dx.doi.org/10.1016/j.ymgmr.2021.100827Test>
Molecular Genetics and Metabolism Reports, Vol 29, Iss, Pp 100827-(2021)
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports 29 (2021) 100827

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Medicine (General), QH301-705.5, Acquired multiple acyl-CoA dehydrogenase deficiency, AC, acylcarnitines, MADD, Multiple acyl-CoA dehydrogenase deficiency, 610 Medicine & health, R5-920, Endocrinology, 1311 Genetics, 1312 Molecular Biology, Genetics, Medicine, ddc:576, Biology (General), Myopathy, Molecular Biology, chemistry.chemical_classification, 630 Agriculture, business.industry, AM, Atypical myopathy, Hypoglycin A, 1310 Endocrinology, DBS, dried blot spots, OA, organic acids, chemistry, 10036 Medical Clinic, Seasonal pasture myopathy, 570 Life sciences, biology, 10090 Equine Department, medicine.symptom, GC–MS, gas chromatography–mass spectrometry, business, Organic acid, Research Paper

وصف الملف: Mathis_2021_MGM_Reports_AM_diagnosis_with_human_methods.pdf - application/pdf; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::608f5880587b0050230bd71125d2871dTest

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 Reports

مصطلحات 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

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c463ae5eb845bc19b2592d9ea19797eTest
http://www.sciencedirect.com/science/article/pii/S2214426920300781Test

المؤلفون: Giovanna Cenacchi, Elisabetta Tasca, Corrado Angelini, Anna Chiara Nascimbeni

المساهمون: Angelini, C, Nascimbeni, Ac, Cenacchi, Giovanna, Tasca, E.

المصدر: Biochimica et Biophysica Acta

مصطلحات موضوعية: Male, 0301 basic medicine, Lipid storage myopathy, MADD, multiple acyl-CoA dehydrogenase deficiency, GAPDH, glyceraldehyde 3-phosphate dehydrogenase, PAS, perjodic acid Schiff, Muscular Dystrophies, chemistry.chemical_compound, Transcription (biology), Transcriptional regulation, Hyperammonemia, Child, Multiple Acyl Coenzyme A Dehydrogenase Deficiency, Glyceraldehyde 3-phosphate dehydrogenase, PPARα, peroxisome proliferator-activated receptor-γ-coactivator-1α, Muscles, NADH-TR, nicotinamide adenine dinucleotide dehydrogenase tetrazolium reductase, Biochemistry, COX, cytochrome oxidase, OCTN2, carnitine organic cation transporter-2, SDH, succinate dehydrogenase, Molecular Medicine, Female, ATP-ase, adenosine tri-phosphatase, FOXO, fork head box protein, Cardiomyopathies, HSL, hormone-sensitive lipase, Adult, LSM, lipid storage myopathy, Adolescent, Lipolysis, CPT, carnitine-palmitoyl-transferase, Biology, Article, NLSD-M, neutral lipid storage disease with myopathy, Lipid Metabolism, Inborn Errors, 03 medical and health sciences, Muscular Diseases, Carnitine, CD, carnitine deficiency, Autophagy, Humans, DAPI, Molecular Biology, Aged, Carnitine deficiency, NLSD-M, ATGL, adipose triglyceride lipase, p62-SQSTM1, p62-sequestosome-1, TFEB, Carnitine O-Palmitoyltransferase, LC3, microtubule-associated proteins light chain-3, MADD, ETF, electron transfer flavoprotein, TFEB, transcription factor-EB, DAPI, 4′,6-diamidin-2-phenylindole, 030104 developmental biology, chemistry, MCT, medium chain triglyceride, biology.protein, EMG, electromyography, CK, creatine kinase, Metabolism, Inborn Errors, Biogenesis

وصف الملف: STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f62b6101c9186748004c91c17fb8c56Test

المؤلفون: Xin, Fan, Bobo, Xie, Jun, Zou, Jingsi, Luo, Zailong, Qin, Alissa M, D'Gama, Jiahai, Shi, Shang, Yi, Qi, Yang, Jin, Wang, Shiyu, Luo, Shaoke, Chen, Pankaj B, Agrawal, Qifei, Li, Yiping, Shen

المصدر: Molecular Genetics and Metabolism Reports

مصطلحات موضوعية: LDH, lactate dehydrogenase, MADD, multiple acyl-CoA dehydrogenase deficiency, Glutaric aciduria II, Riboflavin, ETF-QO, AST, aspartate aminotransferase, ETF, electron transfer flavoprotein, GAII, glutaric aciduria II, ETF-QO, ETF-ubiquinone oxidoreductase, Multiple acyl-CoA dehydrogenase deficiency, ETFDH, RR-MADD, riboflavin-responsive MADD, WES, whole exome sequencing, CK, creatine kinase, Research Paper

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::ca6788124d85bd0f90239168c2968ec7Test
https://pubmed.ncbi.nlm.nih.gov/29988809Test