المؤلفون: Adhikari, Aashish N, Currier, Robert J, Tang, Hao, Turgeon, Coleman T, Nussbaum, Robert L, Srinivasan, Rajgopal, Sunderam, Uma, Kwok, Pui-Yan, Brenner, Steven E, Gavrilov, Dimitar, Puck, Jennifer M, Gallagher, Renata

المصدر: International Journal of Neonatal Screening. 6(2)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Infant Mortality, Genetic Testing, Rare Diseases, Clinical Research, Perinatal Period - Conditions Originating in Perinatal Period, Pediatric, Prevention, Biotechnology, 2.1 Biological and endogenous factors, 4.2 Evaluation of markers and technologies, newborn screening, short-chain acyl-CoA dehydrogenase deficiency, SCADD, ACADS, second-tier testing, ethylmalonic acid, exome sequence, butyrylcarnitine

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/3h2485wf
https://escholarship.org/content/qt3h2485wf/qt3h2485wf.pdf

المؤلفون: Jiaqi Shi, Zhujun Yi, Lin Jin, Lili Zhao, Alexander Raskind, Larisa Yeomans, Zeribe C. Nwosu, Diane M. Simeone, Costas A. Lyssiotis, Kathleen A. Stringer, Richard S. Kwon

المصدر: Neoplasia: An International Journal for Oncology Research, Vol 23, Iss 11, Pp 1078-1088 (2021)

مصطلحات موضوعية: Metabolite, Butyrylcarnitine, Diagnosis, Mucinous cyst, 5-oxoproline, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1476558621000798; https://doaj.org/toc/1476-5586

URL الوصول: https://doaj.org/article/42a71ae8ee2146c2aebbad3ddbb265f9

المؤلفون: Aashish N. Adhikari, Robert J. Currier, Hao Tang, Coleman T. Turgeon, Robert L. Nussbaum, Rajgopal Srinivasan, Uma Sunderam, Pui-Yan Kwok, Steven E. Brenner, Dimitar Gavrilov, Jennifer M. Puck, Renata Gallagher

المصدر: International Journal of Neonatal Screening; Volume 6; Issue 2; Pages: 41

مصطلحات موضوعية: newborn screening, short-chain acyl-CoA dehydrogenase deficiency, SCADD, ACADS, second-tier testing, ethylmalonic acid, exome sequence, butyrylcarnitine

وصف الملف: application/pdf

Relation: https://dx.doi.org/10.3390/ijns6020041

الاتاحة: https://doi.org/10.3390/ijns6020041

المؤلفون: José Luis Marín, Leonor Guiñón, Angel Molina, Judit García-Villoria, Anna Soler, L. Álvarez, R.M. López, Ángeles Sahuquillo

المصدر: Clinica Chimica Acta. 510:117-120

مصطلحات موضوعية: 0301 basic medicine, Free carnitine, Newborn screening, Percentile, Chromatography, medicine.diagnostic_test, Biochemistry (medical), Clinical Biochemistry, Infant, Newborn, Butyrylcarnitine, General Medicine, Laboratory Only, Glutarylcarnitine, Biochemistry, Total error, 03 medical and health sciences, Neonatal Screening, 030104 developmental biology, 0302 clinical medicine, 030220 oncology & carcinogenesis, medicine, Humans, Immunoreactive trypsinogen, Laboratories, Mathematics

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6479d991a01dfde8f6b11a1ce62ebf2
https://doi.org/10.1016/j.cca.2020.07.006

المؤلفون: Tonin, R, Caciotti, A, Funghini, S, Pasquini, E, Mooney, Sd, Cai, B, Proncopio, E, Donati, Ma, Baronio, F, Bettocchi, I, CASSIO, ALESSANDRA, Biasucci, G, Bordugo, A, la Marca, G, Guerrini, R, Morrone, A.

المساهمون: Tonin, R, Caciotti, A, Funghini, S, Pasquini, E, Mooney, Sd, Cai, B, Proncopio, E, Donati, Ma, Baronio, F, Bettocchi, I, Cassio, A, Biasucci, G, Bordugo, A, la Marca, G, Guerrini, R, Morrone, A.

مصطلحات موضوعية: ACADS, Acyl CoA-deydrogenase, short chain, C4-C, butyrylcarnitine, EMA, ethylmalonic acid, LC–MS/MS, Tandem mass spectrometry, NBS, Newborn screening, SCAD, Short-chain acyl-CoA dehydrogenase, SCADD, Short-chain acyl-CoA dehydrogenase deficiency, Synonymous mutation

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/27051597; info:eu-repo/semantics/altIdentifier/wos/WOS:000386869500014; volume:5; firstpage:114; lastpage:119; numberofpages:6; journal:BBA CLINICAL; http://hdl.handle.net/11585/545885; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84961182929; https://www.sciencedirect.com/science/article/pii/S2214647416300083

الاتاحة: http://hdl.handle.net/11585/545885
https://doi.org/10.1016/j.bbacli.2016.03.004
https://www.sciencedirect.com/science/article/pii/S2214647416300083

المؤلفون: Lili Zhao, Zeribe C. Nwosu, Alexander Raskind, Kathleen A. Stringer, Zhujun Yi, Larisa Yeomans, Costas A. Lyssiotis, Jiaqi Shi, Diane M. Simeone, Richard S. Kwon, Lin Jin

المصدر: Neoplasia (New York, N.Y.)
Neoplasia: An International Journal for Oncology Research, Vol 23, Iss 11, Pp 1078-1088 (2021)

مصطلحات موضوعية: Adult, Male, Cancer Research, Pathology, medicine.medical_specialty, Original article, Clinicopathological correlation, Metabolite, Benign cysts, Butyrylcarnitine, Diagnosis, Differential, Carcinoembryonic antigen, Cytology, parasitic diseases, Diagnosis, Biomarkers, Tumor, Medicine, Humans, Cyst, Pathological, RC254-282, Aged, biology, business.industry, Cyst Fluid, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, Middle Aged, medicine.disease, Prognosis, Adenocarcinoma, Mucinous, Pancreatic Neoplasms, 5-oxoproline, biology.protein, Metabolome, Female, Pancreatic cysts, Pancreatic Cyst, Mucinous cyst, business, Metabolic profile, Follow-Up Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96c69d32c9e441eb473e2e0d75960f31
https://pubmed.ncbi.nlm.nih.gov/34583246

المؤلفون: Bieber, L. L., Choi, Y. R.

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 1977 Jul 01. 74(7), 2795-2798.

URL الوصول: https://www.jstor.org/stable/67246

المؤلفون: Renata C. Gallagher, Dimitar Gavrilov, Uma Sunderam, Pui-Yan Kwok, Jennifer M. Puck, Robert L. Nussbaum, Steven E. Brenner, Coleman T. Turgeon, Aashish N. Adhikari, Hao Tang, Rajgopal Srinivasan, Robert J. Currier

المصدر: International journal of neonatal screening
International journal of neonatal screening, vol 6, iss 2
International Journal of Neonatal Screening, Vol 6, Iss 41, p 41 (2020)
International Journal of Neonatal Screening
Volume 6
Issue 2

مصطلحات موضوعية: 0301 basic medicine, genetic structures, short-chain acyl-CoA dehydrogenase deficiency, Dehydrogenase, ACADS, Urine, Neurodegenerative, Compound heterozygosity, Tandem mass spectrometry, chemistry.chemical_compound, 0302 clinical medicine, Immunology and Microbiology (miscellaneous), second-tier testing, SCADD, Medicine, 2.1 Biological and endogenous factors, Exome sequencing, Pediatric, lcsh:RJ1-570, Obstetrics and Gynecology, lipids (amino acids, peptides, and proteins), Biotechnology, 4.2 Evaluation of markers and technologies, Glutaric acid, Article, 03 medical and health sciences, Clinical Research, 030225 pediatrics, Genetics, Genetic Testing, Newborn screening, ethylmalonic acid, butyrylcarnitine, business.industry, newborn screening, Prevention, Human Genome, lcsh:Pediatrics, exome sequence, Perinatal Period - Conditions Originating in Perinatal Period, Molecular biology, eye diseases, Brain Disorders, 030104 developmental biology, chemistry, Pediatrics, Perinatology and Child Health, sense organs, business, human activities

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e3800090cf3152d0a02f72a9e39b4e4
https://pubmed.ncbi.nlm.nih.gov/32802992

المؤلفون: Edward Randell, Salem Werdyani, Hongwei Zhang, Guang Sun, Guangju Zhai, Andrew Furey, Proton Rahman, M. Liu

المصدر: Rheumatology (Oxford, England)

مصطلحات موضوعية: 0301 basic medicine, Male, Osteoporosis, Palmitic Acid, Coronary Disease, arginine, Osteoarthritis, Logistic regression, Gastroenterology, Osteoarthritis, Hip, Body Mass Index, 0302 clinical medicine, Prevalence, Pharmacology (medical), Wasting, AcademicSubjects/MED00360, Muscle Weakness, Fasting, Osteoarthritis, Knee, Clinical Science, 3. Good health, endotypes, Female, medicine.symptom, Quality Control, medicine.medical_specialty, Cachexia, lysophosphatidylcholine, 03 medical and health sciences, Metabolomics, Rheumatology, Internal medicine, Diabetes mellitus, Carnitine, medicine, Diabetes Mellitus, Humans, Aged, 030203 arthritis & rheumatology, butyrylcarnitine, business.industry, Wasting Syndrome, Muscle weakness, Lysophosphatidylcholines, medicine.disease, osteoarthritis, 030104 developmental biology, Logistic Models, Case-Control Studies, business, Factor Analysis, Statistical

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8bcac04edb93ccd02d9eb0e11ac78d7d
https://pubmed.ncbi.nlm.nih.gov/33159799

المؤلفون: Steliou, Kosta, Boosalis, Michael S., Perrine, Susan P., Sangerman, José, Faller, Douglas V.

مصطلحات موضوعية: Acylcarnitine, Butyrate, Butyrylcarnitine, Carnitine, Histone deacetylase

جغرافية الموضوع: United States

وصف الملف: p. 192 - 198

Relation: Biores Open Access; https://www.ncbi.nlm.nih.gov/pubmed/23514803; Kosta Steliou, Michael S Boosalis, Susan P Perrine, José Sangerman, Douglas V Faller. 2012. "Butyrate histone deacetylase inhibitors." Biores Open Access, Volume 1, Issue 4, pp. 192 - 198. https://doi.org/10.1089/biores.2012.0223; https://hdl.handle.net/2144/40827; 0000-0002-5530-3194 (Steliou, Kosta); 31440

الاتاحة: https://hdl.handle.net/2144/40827
https://www.ncbi.nlm.nih.gov/pubmed/23514803
https://doi.org/10.1089/biores.2012.0223

المؤلفون: Villarreal-Pérez, Jesús, Villarreal-Martínez, Jesús, Lavalle-González, Fernando, Torres-Sepúlveda, María, Ruiz-Herrera, Consuelo, Cerda-Flores, Ricardo, Castillo-García, Erik, Rodríguez-Sánchez, Irám, Martínez de Villarreal, Laura

مصطلحات موضوعية: Acetylcarnitine, Butyrylcarnitine, T2DM, Beta-oxidation defect, Non-diabetic obese, Air plethysmography

Relation: http://www.dmsjournal.com/content/6/1/129

الاتاحة: http://www.dmsjournal.com/content/6/1/129

المؤلفون: Russell D. Frew, Gang Chen, Kiri McComb, Dan Zhu, Biniam Tamiru Kebede

المصدر: Journal of dairy science. 103(3)

مصطلحات موضوعية: Bovine milk, Pasteurization, Mass spectrometry, Gas Chromatography-Mass Spectrometry, Mass Spectrometry, law.invention, Cow milk, law, Refrigeration, Pantothenic acid, Genetics, Metabolome, Animals, Metabolomics, Food science, Volatile Organic Compounds, Chemistry, food and beverages, Butyrylcarnitine, Milk, Food Storage, Potential biomarkers, Animal Science and Zoology, Cattle, Female, Food Science

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64049a14a6c6f2c1475ec2e521784e4e
https://pubmed.ncbi.nlm.nih.gov/31980231

المؤلفون: Ayse Cigdem Aktuglu Zeybek, Ertugrul Kiykim, Şeyda Alsancak, Tanyel Zubarioglu, Kenan Barut, Ozgur Kasapcopur, Mehmet Serif Cansever

المصدر: Archives of Rheumatology. 31:133-138

مصطلحات موضوعية: 0301 basic medicine, Free carnitine, medicine.medical_specialty, business.industry, Familial Mediterranean fever, Butyrylcarnitine, Glutarylcarnitine, medicine.disease, Article, Rheumatology, 03 medical and health sciences, 030104 developmental biology, Endocrinology, Secondary carnitine deficiency, Internal medicine, Medicine, Carnitine, business, Dried blood, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13231bbeb21fcbb39a01d763db6a1662
https://doi.org/10.5606/archrheumatol.2016.5696

المؤلفون: Elena Proncopio, Maria Alice Donati, Federico Baronio, Amelia Morrone, Giancarlo la Marca, Ilaria Bettocchi, Giacomo Biasucci, Binghuang Cai, Sean D. Mooney, Anna Caciotti, Silvia Funghini, Rodolfo Tonin, Andrea Bordugo, Renzo Guerrini, Elisabetta Pasquini, Alessandra Cassio

المساهمون: Tonin, R, Caciotti, A, Funghini, S, Pasquini, E, Mooney, Sd, Cai, B, Proncopio, E, Donati, Ma, Baronio, F, Bettocchi, I, Cassio, A, Biasucci, G, Bordugo, A, la Marca, G, Guerrini, R, Morrone, A.

المصدر: BBA Clinical

مصطلحات موضوعية: 0301 basic medicine, Silent mutation, SCAD, In silico, ACADS, Acyl CoA-deydrogenase, short chain, Disease, Biology, Bioinformatics, C4-C, butyrylcarnitine, Pathology and Forensic Medicine, ACADS, 03 medical and health sciences, 0302 clinical medicine, Physiology (medical), Allele, Genetics, SCADD, Short-chain acyl-CoA dehydrogenase deficiency, SCAD, Short-chain acyl-CoA dehydrogenase, Regular Article, EMA, ethylmalonic acid, Synonymous mutation, Phenotype, Short-chain acyl-CoA dehydrogenase, LC–MS/MS, Tandem mass spectrometry, 030104 developmental biology, RNA splicing, Molecular Medicine, Synonymous substitution, NBS, Newborn screening, 030217 neurology & neurosurgery

وصف الملف: STAMPA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d06e9c88fbb191a22b871aba196ab5c
http://europepmc.org/articles/PMC4816031

المؤلفون: Mark Haid, Jerzy Adamski, Gabriele Möller, Simone Wahl, Cornelia Prehn, Caroline Muschet, Werner Römisch-Margl

المصدر: Journal of proteome research. 17(1)

مصطلحات موضوعية: 0301 basic medicine, chemistry.chemical_classification, Cryopreservation, Potential impact, Chromatography, Chemistry, Metabolite, Decreased Concentration, Butyrylcarnitine, General Chemistry, Biochemistry, Amino acid, 03 medical and health sciences, chemistry.chemical_compound, Plasma, 030104 developmental biology, Metabolomics, Human plasma, Carnitine, Humans, Longitudinal Studies, Amino Acids, Phospholipids, Hexoses

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5508de02f192adf51e9927c40c61b35
https://pubmed.ncbi.nlm.nih.gov/29064256

المؤلفون: Kosta Steliou, Michael S. Boosalis, Susan P. Perrine, José Sangerman, Douglas V. Faller

المصدر: BioResearch Open Access
BioResearch Open Access, Vol 1, Iss 4, Pp 192-198 (2012)

مصطلحات موضوعية: Telomerase, Cellular differentiation, lcsh:Medicine, Butyrate, Biology, General Biochemistry, Genetics and Molecular Biology, acylcarnitine, 03 medical and health sciences, 0302 clinical medicine, lcsh:QH301-705.5, 030304 developmental biology, 0303 health sciences, butyrylcarnitine, Cell growth, lcsh:R, carnitine, Cell cycle, Mini-Review, butyrate, 3. Good health, Biochemistry, lcsh:Biology (General), Cell culture, 030220 oncology & carcinogenesis, Cancer cell, histone deacetylase, Cancer research, Histone deacetylase

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4840008e3401d8d8911cef24ec7b14b0
http://europepmc.org/articles/PMC3559235

المؤلفون: Erik Rubén Castillo-García, Consuelo Ruiz-Herrera, Fernando J. Lavalle-González, Jesús Zacarías Villarreal-Pérez, Ricardo M. Cerda-Flores, Jesús Zacarías Villarreal-Martínez, Laura E. Martínez de Villarreal, María del Rosario Torres-Sepúlveda, Iram P. Rodriguez-Sanchez

المصدر: Diabetology & Metabolic Syndrome

مصطلحات موضوعية: medicine.medical_specialty, Air plethysmography, Endocrinology, Diabetes and Metabolism, T2DM, Butyrylcarnitine, Excretion, chemistry.chemical_compound, Insulin resistance, Valine, Diabetes mellitus, Internal medicine, medicine, Internal Medicine, Beta-oxidation defect, Beta oxidation, Ketogenic amino acid, business.industry, Research, nutritional and metabolic diseases, Type 2 Diabetes Mellitus, Non-diabetic obese, medicine.disease, Endocrinology, chemistry, Leucine, business, Acetylcarnitine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::035dad60823d92b987a9347ceac3cf28
http://europepmc.org/articles/PMC4416397

المؤلفون: Li Liu, Ruizhu Lin, Minzhi Peng, Yanna Cai, Yonglan Huang, Cui-li Liang, Xiefan Fang

المصدر: Journal of chromatography. A. 1319

مصطلحات موضوعية: Chromatography, Chemistry, Organic Chemistry, Fatty Acids, Fatty acid oxidation defects, Reproducibility of Results, Butyrylcarnitine, General Medicine, Glutarylcarnitine, Reference Standards, Mass spectrometry, Biochemistry, Analytical Chemistry, Triple quadrupole mass spectrometer, Reference intervals, Diagnosis, Differential, Isomerism, Liquid chromatography–mass spectrometry, Tandem Mass Spectrometry, Carnitine, Humans, Quadrupole ion trap, Oxidation-Reduction, Chromatography, High Pressure Liquid, Metabolism, Inborn Errors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc60ba86435b0ac33dbcd35d3d4930b6
https://pubmed.ncbi.nlm.nih.gov/24169039

المؤلفون: S. Durka, Claus W. Heizmann, Th. Kuster, F. Neuheiser, Heinz Troxler, Toni Torresani, Peter Kleinert

المصدر: Journal of Inherited Metabolic Disease. 27:707-709

مصطلحات موضوعية: Spectrometry, Mass, Electrospray Ionization, Time Factors, Chromatography, Filter paper, Chemistry, Electrospray ionization, Lidocaine, Butyrylcarnitine, Contamination, Tandem mass spectrometry, Emla cream, Prilocaine, chemistry.chemical_compound, Carnitine, Chemistry, Clinical, Genetics, Humans, Propionyl carnitine, Derivatization, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::97b601081f48b937efb31a92071452df
https://doi.org/10.1023/b:boli.0000043024.08450.0c