المؤلفون: Ruiz de Gauna, Mikel, Biancaniello, Francesca, González-Romero, Francisco, Rodrigues, Pedro M, Lapitz, Ainhoa, Gómez-Santos, Beatriz, Olaizola, Paula, Di Matteo, Sabina, Aurrekoetxea, Igor, Labiano, Ibone, Nieva-Zuluaga, Ane, Benito-Vicente, Asier, Perugorria, María J, Apodaka-Biguri, Maider, Paiva, Nuno A, Sáenz de Urturi, Diego, Buqué, Xabier, Delgado, Igotz, Martín, César, Azkargorta, Mikel, Elortza, Felix, Calvisi, Diego F, Andersen, Jesper B, Alvaro, Domenico, Cardinale, Vincenzo, Bujanda, Luis, Banales, Jesús M, Aspichueta, Patricia

المساهمون: Ruiz de Gauna, Mikel, Biancaniello, Francesca, González-Romero, Francisco, Rodrigues, Pedro M, Lapitz, Ainhoa, Gómez-Santos, Beatriz, Olaizola, Paula, Di Matteo, Sabina, Aurrekoetxea, Igor, Labiano, Ibone, Nieva-Zuluaga, Ane, Benito-Vicente, Asier, Perugorria, María J, Apodaka-Biguri, Maider, Paiva, Nuno A, Sáenz de Urturi, Diego, Buqué, Xabier, Delgado, Igotz, Martín, César, Azkargorta, Mikel, Elortza, Felix, Calvisi, Diego F, Andersen, Jesper B, Alvaro, Domenico, Cardinale, Vincenzo, Bujanda, Lui, Banales, Jesús M, Aspichueta, Patricia

مصطلحات موضوعية: acyl coenzyme A dehydrogenase, cholesterol ester, cycline, fatty acid, high density lipoprotein, lipid, lipoprotein, medium chain acyl coenzyme A dehydrogenase, Notch1 receptor, protein kinase B, proteome, triacylglycerol, very low density lipoprotein

Relation: info:eu-repo/semantics/altIdentifier/pmid/35030285; info:eu-repo/semantics/altIdentifier/wos/WOS:000752665200001; volume:76; issue:6; firstpage:1617; lastpage:1633; numberofpages:17; journal:HEPATOLOGY; https://hdl.handle.net/11573/1692991

الاتاحة: https://hdl.handle.net/11573/1692991
https://doi.org/10.1002/hep.32344

المؤلفون: Michael J. Bennett, Miao He, Rebecca D. Ganetzky, Stephen R. Master, Hana Alharbi

المصدر: Clin Chem

مصطلحات موضوعية: Clinical Chemist, Chemistry, Hexanoylglycine, Biochemistry (medical), Clinical Biochemistry, MCADD, medicine.disease, Acyl-CoA Dehydrogenase, Lipid Metabolism, Inborn Errors, Biochemistry, Suberylglycine, medicine, Humans, Presentation (obstetrics), Biomarkers, Medium chain acyl coenzyme A dehydrogenase

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef9dd0063666868d04d2e3a3dc49e440
https://doi.org/10.1093/clinchem/hvab154

المؤلفون: Bentler, K, Zhai, S, Elsbecker, S, Arnold, G, Burton, B, Vockley, J, Cameron, C, Hiner, S, Edick, M, Berry, S, Thomas, J, Dodge, M, Singh, R, Lakshman, S, Kronn, David, Inborn Errors of Metabolism Collaborative

المصدر: NYMC Faculty Publications

مصطلحات موضوعية: ACADM, Inborn error of metabolism, MCAD, Medium-chain acyl-coenzyme A dehydrogenase deficiency, Newborn screening, Octanoylcarnitine, Enzymes and Coenzymes, Genetics, Medicine and Health Sciences, Pediatrics

وصف الملف: application/pdf

Relation: https://touroscholar.touro.edu/nymc_fac_pubs/256; https://touroscholar.touro.edu/context/nymc_fac_pubs/article/1257/viewcontent/Kronn_David_Newborn.pdf

الاتاحة: https://touroscholar.touro.edu/nymc_fac_pubs/256
https://doi.org/10.1016/j.ymgme.2016.07.002
https://touroscholar.touro.edu/context/nymc_fac_pubs/article/1257/viewcontent/Kronn_David_Newborn.pdf

المؤلفون: Tracy L, McGregor, Susan A, Berry, Katrina M, Dipple, Rizwan, Hamid, Marilyn C, Jones

المصدر: Pediatrics. 147(1)

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Premedication, Acyl-CoA Dehydrogenase, Lipid Metabolism, Inborn Errors, Acute illness, 03 medical and health sciences, 0302 clinical medicine, Clinical report, Postoperative Complications, 030225 pediatrics, Carnitine, medicine, Humans, In patient, Clinical care, Child, Intraoperative Complications, Beta oxidation, Medium chain acyl coenzyme A dehydrogenase, business.industry, MCADD, medicine.disease, Hypoglycemia, Glucose, Sweetening Agents, Pediatrics, Perinatology and Child Health, Fluid Therapy, Management principles, Emergencies, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae970aa22ad367c28bc728c60ee0e10a
https://pubmed.ncbi.nlm.nih.gov/33372121

المؤلفون: Inderneel Sahai, Susan E. Waisbren, Roman Yusupov, Edwin W. Naylor, David N. Finegold, Harvey L. Levy

المصدر: Molecular Genetics and Metabolism. 101:33-39

مصطلحات موضوعية: Male, medicine.medical_specialty, Pediatrics, Endocrinology, Diabetes and Metabolism, Biology, Biochemistry, Sudden death, Acyl-CoA Dehydrogenase, Lipid Metabolism, Inborn Errors, Death, Sudden, Neonatal Screening, Endocrinology, Internal medicine, Genetics, medicine, Humans, Molecular Biology, Beta oxidation, Medium chain acyl coenzyme A dehydrogenase, Newborn screening, Splice site mutation, Homozygote, Infant, Newborn, Infant, MCADD, medicine.disease, Dehydrogenase deficiency, Child, Preschool, Mutation, Vomiting, Female, medicine.symptom

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90560254490f73419111aca553a1a6bb
https://doi.org/10.1016/j.ymgme.2010.05.007

المؤلفون: P. Chetcuti, P. Bala, Sacha Ferdinandusse, Simon E. Olpin, A. A. M. Morris

المصدر: JIMD Reports ISBN: 9783662504086

مصطلحات موضوعية: medicine.medical_specialty, Pediatrics, business.industry, Ventricular Tachyarrhythmias, Pulseless ventricular tachycardia, Recurrent ventricular tachycardia, nutritional and metabolic diseases, Article, Poor Feeding, Lethargy, Intravenous glucose, Internal medicine, cardiovascular system, Cardiology, medicine, cardiovascular diseases, business, Beta oxidation, Medium chain acyl coenzyme A dehydrogenase

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd3e68292bced1fbd09b0501ce55ebc3
https://pubmed.ncbi.nlm.nih.gov/26404458

المؤلفون: Ginger W. Wilhelm

المصدر: The Journal of Emergency Medicine. 30:291-294

مصطلحات موضوعية: Adult, medicine.medical_specialty, Vomiting, Sudden death, Acyl-CoA Dehydrogenase, Acyl-CoA dehydrogenase deficiency, Lethargy, chemistry.chemical_compound, Internal medicine, medicine, Humans, Confusion, Fatigue, Medium chain acyl coenzyme A dehydrogenase, Fatty acid metabolism, business.industry, nutritional and metabolic diseases, Pathophysiology, Death, Sudden, Cardiac, Endocrinology, chemistry, Emergency Medicine, Female, medicine.symptom, Differential diagnosis, Emergency Service, Hospital, business, Metabolism, Inborn Errors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0333525e5eea0e7ae9333e99c6f76a7d
https://doi.org/10.1016/j.jemermed.2005.05.030

المؤلفون: Frank Bowling, Gaurav Kumar, Avis McWhinney, Tom R. Karl, Adrian C. Mattke, Nelson Alphonso

المصدر: World Journal for Pediatric and Congenital Heart Surgery. 5:118-120

مصطلحات موضوعية: Male, endocrine system, Resuscitation, Pediatrics, medicine.medical_specialty, Ventricular tachycardia, Acyl-CoA Dehydrogenase, Lipid Metabolism, Inborn Errors, Extracorporeal, Extracorporeal Membrane Oxygenation, Carnitine, medicine, Humans, Medium chain acyl coenzyme A dehydrogenase, Fibrillation, business.industry, Infant, Newborn, nutritional and metabolic diseases, General Medicine, medicine.disease, Cardiopulmonary Resuscitation, Dehydrogenase deficiency, Heart Arrest, Surgery, Treatment Outcome, Life support, Ventricular Fibrillation, Vitamin B Complex, Pediatrics, Perinatology and Child Health, Ventricular fibrillation, medicine.symptom, Cardiology and Cardiovascular Medicine, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d281fc3bea669a749acbd2749db959a9
https://doi.org/10.1177/2150135113501900

المؤلفون: Bianca C. Bernardo, Paul Gregorevic, Kate L. Weeks, Thawin Pongsukwechkul, Yow Keat Tham, Helen Kiriazis, Xiao-Ming Gao, Xin Du, Julie R. McMullen

المصدر: Heart, Lung and Circulation. 26:S105-S106

مصطلحات موضوعية: Pulmonary and Respiratory Medicine, Biochemistry, business.industry, Cardiac hypertrophy, Medicine, Gene delivery, Cardiology and Cardiovascular Medicine, business, Pathological, Medium chain acyl coenzyme A dehydrogenase

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::9c32b30c03cbb197fdf0bec0c19461d5
https://doi.org/10.1016/j.hlc.2017.06.144

المؤلفون: Terry G J Derks, G. Peter A. Smit, Mark M. Span, Francjan J. van Spronsen, Jan Peter Rake, Christian S. van der Hilst

المساهمون: Center for Liver, Digestive and Metabolic Diseases (CLDM)

المصدر: European Journal of Pediatrics, 166(1), 5-11. SPRINGER

مصطلحات موضوعية: medicine.medical_specialty, Pediatrics, INBORN-ERRORS, Time Factors, inborn errors of metabolism, DIAGNOSIS, OXIDATION, COA DEHYDROGENASE-DEFICIENCY, Acyl-CoA dehydrogenase deficiency, Acyl-CoA Dehydrogenase, Internal medicine, medicine, neonatal screening, Humans, In patient, FUEL METABOLISM, Medium chain acyl coenzyme A dehydrogenase, Netherlands, therapy, biology, business.industry, Medical screening, nutritional and metabolic diseases, Acyl CoA dehydrogenase, Infant, Fasting, medium chain acyl-Coenzyme A dehydrogenase, BIOCHEMICAL-GENETIC DISORDERS, L-CARNITINE, Endocrinology, El Niño, Recien nacido, Child, Preschool, Pediatrics, Perinatology and Child Health, biology.protein, Congenital disease, business, Metabolism, Inborn Errors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a689913f0e6e68de4bb86d3d5f557ffd
https://pubmed.ncbi.nlm.nih.gov/16788829

المؤلفون: Kumar, Gaurav, Mattke, Adrian C., Bowling, Frank, McWhinney, Avis, Alphonso, Nelson, Karl, Tom R.

مصطلحات موضوعية: extracorporeal life support, medium chain acyl-coenzyme A dehydrogenase deficiency, ventricular fibrillation, 2705 Cardiology and Cardiovascular Medicine, 2735 Pediatrics, Perinatology, and Child Health, 2746 Surgery

Relation: orcid:0000-0002-3735-8298

الاتاحة: https://espace.library.uq.edu.au/view/UQ:342862

المؤلفون: Boris Rolinski, Bernd Flath, Adelbert A. Roscher

المصدر: Journal of Chromatography B: Biomedical Sciences and Applications. 694:227-232

مصطلحات موضوعية: chemistry.chemical_classification, Chromatography, Phenylpropionates, biology, Chemistry, Hippurates, Glycine, Hippuric acid, Acyl CoA dehydrogenase, Dehydrogenase, General Chemistry, Urine, Hydrogen-Ion Concentration, Sensitivity and Specificity, High-performance liquid chromatography, Acyl-CoA Dehydrogenase, Solvent, chemistry.chemical_compound, Enzyme, Acyl-CoA Dehydrogenases, Biochemistry, biology.protein, Humans, Chromatography, High Pressure Liquid, Medium chain acyl coenzyme A dehydrogenase

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::88473cdf90e2e3085c04900302d47888
https://doi.org/10.1016/s0378-4347(97)00145-x

المؤلفون: Nawal Mahkseed, Shubhayan Sanatani, Ramon Brugada, Hilary Vallance

المصدر: Journal of Cardiovascular Electrophysiology. 16:342-344

مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Bundle-Branch Block, Sudden death, Lipid Metabolism, Inborn Errors, Diagnosis, Differential, Electrocardiography, Acyl-CoA Dehydrogenases, Physiology (medical), Internal medicine, Humans, Medicine, cardiovascular diseases, Beta oxidation, Medium chain acyl coenzyme A dehydrogenase, Brugada syndrome, chemistry.chemical_classification, business.industry, Infant, Newborn, Fatty acid, Syndrome, medicine.disease, Dehydrogenase deficiency, Endocrinology, chemistry, Brugada ECG Pattern, Cardiology and Cardiovascular Medicine, business, Sudden Infant Death

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef095e7cdc740e395742e69eb94a0289
https://doi.org/10.1046/j.1540-8167.2005.40607.x

المؤلفون: Kene Maduemem

المصدر: BMJ Case Reports. :bcr2016217538

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Diagnostic dilemma, Article, Acyl-CoA Dehydrogenase, Lipid Metabolism, Inborn Errors, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Ketogenesis, medicine, Humans, Well child, Medium chain acyl coenzyme A dehydrogenase, chemistry.chemical_classification, Newborn screening, business.industry, Infant, Fatty acid, General Medicine, MCADD, medicine.disease, Hypoglycemia, Dehydrogenase deficiency, 030104 developmental biology, Endocrinology, chemistry, Female, business, Ireland, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5f69b53e06d60ad6042303250f0e350
https://doi.org/10.1136/bcr-2016-217538

المؤلفون: Raanan Arens, D. Gozal, Shamshad Muscati, Karen Jain, Sally L. Davidso Ward, Eva T. Heuser, Julian C. Williams, Thomas G. Keens

المصدر: The Journal of Pediatrics. 122:715-718

مصطلحات موضوعية: Fatty Acid Desaturases, Male, Population, Physiology, Polymerase Chain Reaction, Sudden death, Acyl-CoA Dehydrogenase, Humans, Medicine, education, Medium chain acyl coenzyme A dehydrogenase, Genetics, chemistry.chemical_classification, education.field_of_study, biology, business.industry, Incidence (epidemiology), Infant, Fatty acid, Acyl CoA dehydrogenase, Heterozygote advantage, DNA, Sudden infant death syndrome, chemistry, Mutation, Pediatrics, Perinatology and Child Health, biology.protein, Female, business, Sudden Infant Death

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8fafe6577251807ffa28668d3123cb3c
https://doi.org/10.1016/s0022-3476(06)80010-7

المؤلفون: Derks, Terry G J, van Spronsen, Francjan J, Rake, Jan Peter, van der Hilst, Christian S, Span, Mark M, Smit, G Peter A

المصدر: Derks , T G J , van Spronsen , F J , Rake , J P , van der Hilst , C S , Span , M M & Smit , G P A 2007 , ' Safe and unsafe duration of fasting for children with MCAD deficiency ' , European Journal of Pediatrics , vol. 166 , no. 1 , pp. 5-11 . https://doi.org/10.1007/s00431-006-0186-0

مصطلحات موضوعية: inborn errors of metabolism, medium chain acyl-Coenzyme A dehydrogenase, neonatal screening, fasting, therapy, COA DEHYDROGENASE-DEFICIENCY, BIOCHEMICAL-GENETIC DISORDERS, INBORN-ERRORS, FUEL METABOLISM, L-CARNITINE, DIAGNOSIS, OXIDATION

Relation: https://research.rug.nl/en/publications/9b348534-d77d-4831-aeac-71a8682bd772

الاتاحة: https://hdl.handle.net/11370/9b348534-d77d-4831-aeac-71a8682bd772
https://research.rug.nl/en/publications/9b348534-d77d-4831-aeac-71a8682bd772
https://doi.org/10.1007/s00431-006-0186-0

المؤلفون: V Venkatesh, J Cyriac, C Gupta

المصدر: The Journal of international medical research. 36(3)

مصطلحات موضوعية: Male, medicine.medical_specialty, Biochemistry, Acyl-CoA Dehydrogenase, Infant, Newborn, Diseases, Mitochondrial fatty acid, Fatal Outcome, Internal medicine, medicine, Humans, Carnitine, Genotyping, Medium chain acyl coenzyme A dehydrogenase, Pregnancy, business.industry, Biochemistry (medical), Infant, Newborn, nutritional and metabolic diseases, Cell Biology, General Medicine, medicine.disease, Endocrinology, Gestation, Neonatal death, Presentation (obstetrics), business, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df523d9b9c483955706f5480ab55cac3
https://pubmed.ncbi.nlm.nih.gov/18534147

المؤلفون: Kevin Carpenter, Judith Hammond, Bridget Wilcken

المصدر: Archives of Disease in Childhood. 69:292-294

مصطلحات موضوعية: Fatty Acid Desaturases, Male, medicine.medical_specialty, Pediatrics, Vomiting, Hypoglycemia, Asymptomatic, Acyl-CoA Dehydrogenase, Internal medicine, medicine, Humans, Medium chain acyl coenzyme A dehydrogenase, biology, business.industry, Infant, Newborn, nutritional and metabolic diseases, Acyl CoA dehydrogenase, medicine.disease, Infant newborn, Endocrinology, Recien nacido, Mutation, Pediatrics, Perinatology and Child Health, biology.protein, Muscle Hypotonia, Female, Sleep Stages, medicine.symptom, business, Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5930b6926fb95375bc7784bf7aa9f88
https://doi.org/10.1136/adc.69.3_spec_no.292

المؤلفون: Carol L. Greene, Anne J. Davidson-Mundt, Anthony S. Luder

المصدر: The Journal of Pediatrics. 120:444-446

مصطلحات موضوعية: Blood Glucose, Fatty Acid Desaturases, musculoskeletal diseases, Ketones urine, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Uric acid blood, urologic and male genital diseases, Acyl-CoA Dehydrogenase, Diagnosis, Differential, Internal medicine, medicine, Humans, Hyperuricemia, Medium chain acyl coenzyme A dehydrogenase, chemistry.chemical_classification, biology, business.industry, Infant, nutritional and metabolic diseases, Acyl CoA dehydrogenase, Ketones, medicine.disease, Dehydrogenase deficiency, Uric Acid, Enzyme, Endocrinology, chemistry, Child, Preschool, Acute Disease, Pediatrics, Perinatology and Child Health, biology.protein, lipids (amino acids, peptides, and proteins), business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d3e73357335deec83a967ec66c4051a
https://doi.org/10.1016/s0022-3476(05)80918-7

المؤلفون: Maureen Cleary, Anupam Chakrapani, J Walter, James V. Leonard, J Oerton, Michael Champion, Brage S. Andresen, Carol Dezateux, Mark Sharrard, Javaria M Khalid

المصدر: Archives of Disease in Childhood. 95:A2.2-A2

مصطلحات موضوعية: Newborn screening, Pediatrics, medicine.medical_specialty, business.industry, Pathogenicity, MCADD, medicine.disease, Vaccination, Pediatrics, Perinatology and Child Health, Medicine, Presumptive positive, Prospective cohort study, business, Medium chain acyl coenzyme A dehydrogenase, Urine organic acids

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f25b7069c62c0fc8ebf67c1cd0f81ac5
https://doi.org/10.1136/adc.2010.186338.5