المؤلفون: Bojana Rakic, Hilary Vallance, Joshua A. Dubland, Graham Sinclair

المصدر: Journal of Mass Spectrometry and Advances in the Clinical Lab, Vol 20, Iss, Pp 1-10 (2021)
Journal of Mass Spectrometry and Advances in the Clinical Lab

مصطلحات موضوعية: Newborn screening, MS/MS, tandem mass spectrometry, 2-Methylcitric acid, Homocysteine, Clinical Biochemistry, rpm, revolutions per minute, Methylmalonic acid, Tandem mass spectrometry, MMA, methylmalonic acid, NBS, newborn screening, chemistry.chemical_compound, DMAP, 4-(dimethylamino)pyridine, Met, methionine, Liquid chromatography–mass spectrometry, HCl, hydrochloric acid, health care economics and organizations, DBS, dried blood spot, Spectroscopy, FA, formic acid, ESI, electrospray ionization, Second-tier, LC, liquid chromatography, food and beverages, Regular Article, Dried blood spot, Medical Laboratory Technology, Specimen collection, S/N, signal-to-noise, GC, gas chromatography, Phe, phenylalanine, DAABD-AE, 4-[2-(N,N-dimethylamino)ethylaminosulfonyl]-7-(2-aminoethylamino)-2,1,3-benzoxadiazole, LLOQ, lower limit of quantitation, Analyte, HCY, homocysteine, education, MCA, 2-methylcitric acid, Cbl, cobalamin, Microbiology, LLOD, lower limit of detection, GPCho’s, glycerophosphocholines, health services administration, EDC, N-(3-dimethylaminopropyl)-N′-ethylcarbodiimide hydrochloride, Medical technology, C2, acetylcarnitine, R855-855.5, Derivatization, CBS, cystathionine β-synthase, MPs, mobile phases, Chromatography, Mass spectrometry, C3, propionylcarnitine, PPV, positive predictive value, QC, quality control, MS, mass spectrometry, chemistry, DTT, dithiothreitol, MRM, multiple reaction monitoring

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50beebd48c7a916d499a13356b9284c0
https://doi.org/10.1016/j.jmsacl.2021.03.001

المؤلفون: Katrin Õunap, Mari-Anne Vals, Kai Muru, Kadi Künnapas, Karit Reinson, Annika Kriisa

المصدر: Molecular Genetics and Metabolism Reports, Vol 15, Iss, Pp 1-5 (2018)
Molecular Genetics and Metabolism Reports

مصطلحات موضوعية: Newborn screening, Pediatrics, medicine.medical_specialty, Tandem mass spectrometry, Elevated propionylcarnitine, tHcy, total homocysteine, MMA, methylmalonic acid, Congenital deficiency, NBS, newborn screening, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Met, methionine, 030225 pediatrics, Genetics, Medicine, C2, acetylcarnitine, Vitamin B12, Molecular Biology, lcsh:QH301-705.5, Biochemical markers, DBS, dried blood spots, lcsh:R5-920, C3, propionylcarnitine, business.industry, Incidence (epidemiology), food and beverages, Congenital vitamin B12 deficiency, MS, mass spectrometry, lcsh:Biology (General), C16, palmitoylcarnitine, High incidence, business, lcsh:Medicine (General), 030217 neurology & neurosurgery, After treatment, Research Paper

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2a47e8269b32637787776ad61d82292
http://www.sciencedirect.com/science/article/pii/S2214426917301301

المؤلفون: Dubland JA; Department of Pathology and Laboratory Medicine, British Columbia Children's Hospital, Vancouver, BC, Canada.; British Columbia Children's Hospital Research Institute, Vancouver, BC, Canada.; Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, BC, Canada., Rakić B; Department of Pathology and Laboratory Medicine, British Columbia Children's Hospital, Vancouver, BC, Canada.; British Columbia Children's Hospital Research Institute, Vancouver, BC, Canada.; Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, BC, Canada., Vallance H; Department of Pathology and Laboratory Medicine, British Columbia Children's Hospital, Vancouver, BC, Canada.; British Columbia Children's Hospital Research Institute, Vancouver, BC, Canada.; Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, BC, Canada., Sinclair G; Department of Pathology and Laboratory Medicine, British Columbia Children's Hospital, Vancouver, BC, Canada.; British Columbia Children's Hospital Research Institute, Vancouver, BC, Canada.; Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, BC, Canada.

المصدر: Journal of mass spectrometry and advances in the clinical lab [J Mass Spectrom Adv Clin Lab] 2021 Mar 17; Vol. 20, pp. 1-10. Date of Electronic Publication: 2021 Mar 17 (Print Publication: 2021).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier B.V Country of Publication: Netherlands NLM ID: 101776811 Publication Model: eCollection Cited Medium: Internet ISSN: 2667-145X (Electronic) Linking ISSN: 2667145X NLM ISO Abbreviation: J Mass Spectrom Adv Clin Lab Subsets: PubMed not MEDLINE

المؤلفون: Reinson K; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia., Künnapas K; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia., Kriisa A; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia., Vals MA; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.; Children's Clinic, Tartu University Hospital, Tartu, Estonia., Muru K; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia., Õunap K; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.

المصدر: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2018 Jan 11; Vol. 15, pp. 1-5. Date of Electronic Publication: 2018 Jan 11 (Print Publication: 2018).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101624422 Publication Model: eCollection Cited Medium: Print ISSN: 2214-4269 (Print) Linking ISSN: 22144269 NLM ISO Abbreviation: Mol Genet Metab Rep Subsets: PubMed not MEDLINE