Zobrazeno 1 - 10
of 20
pro vyhledávání: '"DBS, dried blood spots"'
Publikováno v:
Journal of Mass Spectrometry and Advances in the Clinical Lab
Journal of Mass Spectrometry and Advances in the Clinical Lab, Vol 19, Iss, Pp 7-19 (2021)
Journal of Mass Spectrometry and Advances in the Clinical Lab, Vol 19, Iss, Pp 7-19 (2021)
Graphical abstract
Introduction Due to its high specificity and sensitivity, liquid chromatography coupled to tandem mass spectrometry (LC-MS/MS) is the gold standard method for immunosuppressant quantification in therapeutic drug monitoring. In
Introduction Due to its high specificity and sensitivity, liquid chromatography coupled to tandem mass spectrometry (LC-MS/MS) is the gold standard method for immunosuppressant quantification in therapeutic drug monitoring. In
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df1b1bf3289038564893ac12f0145981
https://pubmed.ncbi.nlm.nih.gov/34820661
https://pubmed.ncbi.nlm.nih.gov/34820661
Autor:
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
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 24, Iss, Pp 100632-(2020)
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports
Introduction Mitochondrial fatty acid oxidation disorders (FAODs) are a heterogeneous group of hereditary autosomal recessive diseases included in newborn screening (NBS) program in Italy. The aim of this study was to analyse FAODs cases, identified
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c463ae5eb845bc19b2592d9ea19797e
http://www.sciencedirect.com/science/article/pii/S2214426920300781
http://www.sciencedirect.com/science/article/pii/S2214426920300781
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 15, Iss, Pp 1-5 (2018)
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports
Vitamin B12 deficiency seems to be more common worldwide than previously thought. However, only a few reports based on data from newborn screening (NBS) programs have drawn attention to that subject. In Estonia, over the past three years, we have dia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2a47e8269b32637787776ad61d82292
http://www.sciencedirect.com/science/article/pii/S2214426917301301
http://www.sciencedirect.com/science/article/pii/S2214426917301301
Autor:
Michael Christiansen, Sok Kean Khoo, Marie Bækvad-Hansen, Christian M. Hagen, Maria Louise Johannesen, Jonas Bybjerg-Grauholm, David M. Hougaard, Mads V. Hollegaard, Christine Søholm Hansen
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 10, Iss C, Pp 33-37 (2017)
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports
Neonatal dried blood spots (DBS) are routinely collected on standard Guthrie cards for all-comprising national newborn screening programs for inborn errors of metabolism, hypothyroidism and other diseases. In Denmark, the Guthrie cards are stored at
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b406de6f3b71da7b53c7b8dfe0471658
http://www.sciencedirect.com/science/article/pii/S2214426916301069
http://www.sciencedirect.com/science/article/pii/S2214426916301069
Publikováno v:
One Health
One Health, Vol 11, Iss, Pp 100190-(2020)
One Health, Vol 11, Iss, Pp 100190-(2020)
Background Efforts for malaria elimination in India focus solely on the more prevalent human malaria parasites of Plasmodium falciparum (Pf) and Plasmodium vivax (Pv). The three non-Pf/Pv species - Plasmodium malariae (Pm), Plasmodium ovale (Po) and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99c50189bd2c670f34e0e7f3b853d292
https://doi.org/10.1016/j.onehlt.2020.100190
https://doi.org/10.1016/j.onehlt.2020.100190
Autor:
Luvinia Kwan, J.R. Thompson, Cheryl Rockman-Greenberg, P. Van Caeseele, O. Jilkina, Marlis L. Schroeder
Publikováno v:
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 324-333 (2014)
Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 324-333 (2014)
In Manitoba, Canada, the overall incidence of Severe Combined Immunodeficiency (SCID) is three-fold higher than the national average, with SCID overrepresented in two population groups: Mennonites and First Nations of Northern Cree ancestries. T-cell
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f764e1aaa8954dd5ec889610c27e4b2c
https://doi.org/10.1016/j.ymgmr.2014.07.003
https://doi.org/10.1016/j.ymgmr.2014.07.003
Autor:
Bunch DR; Nationwide Children's Hospital, College of Medicine, The Ohio State University, Columbus, OH, USA.
Publikováno v:
Journal of mass spectrometry and advances in the clinical lab [J Mass Spectrom Adv Clin Lab] 2023 Mar 03; Vol. 28, pp. 80-81. Date of Electronic Publication: 2023 Mar 03 (Print Publication: 2023).
Autor:
Joubert A; Division of Clinical Pharmacology, Department of Medicine, University of Cape Town, Cape Town, South Africa., Joubert A; Division of Clinical Pharmacology, Department of Medicine, University of Cape Town, Cape Town, South Africa., van der Merwe M; Division of Clinical Pharmacology, Department of Medicine, University of Cape Town, Cape Town, South Africa., Norman J; Division of Clinical Pharmacology, Department of Medicine, University of Cape Town, Cape Town, South Africa., Castel S; Division of Clinical Pharmacology, Department of Medicine, University of Cape Town, Cape Town, South Africa., Denti P; Division of Clinical Pharmacology, Department of Medicine, University of Cape Town, Cape Town, South Africa., Sliwa K; Cape Heart Institute, Department of Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.; Division of Cardiology, Department of Medicine, Groote Schuur Hospital, University of Cape Town, Cape Town, South Africa., Maartens G; Division of Clinical Pharmacology, Department of Medicine, University of Cape Town, Cape Town, South Africa., Sinxadi P; Division of Clinical Pharmacology, Department of Medicine, University of Cape Town, Cape Town, South Africa., Wiesner L; Division of Clinical Pharmacology, Department of Medicine, University of Cape Town, Cape Town, South Africa.
Publikováno v:
Journal of mass spectrometry and advances in the clinical lab [J Mass Spectrom Adv Clin Lab] 2022 Dec 12; Vol. 27, pp. 7-17. Date of Electronic Publication: 2022 Dec 12 (Print Publication: 2023).
Autor:
Civallero G; BioDiscovery Laboratory and Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.; INAGEMP, Porto Alegre, Brazil., Kubaski F; BioDiscovery Laboratory and Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.; PPGBM and Department of Genetics, UFRGS, Porto Alegre, Brazil., Pereira D; Waters Technologies Brazil, São Paulo, Brazil.; Innovatox, São Paulo, Brazil., Rübensam G; Centro de Pesquisa em Toxicologia e Farmacologia, PUC, Porto Alegre, Brazil., Herbst ZM; Department of Chemistry, University of Washington, Seattle, USA., Silva C; Waters Technologies Brazil, São Paulo, Brazil., Trapp FB; BioDiscovery Laboratory and Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil., Poletto E; BioDiscovery Laboratory and Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.; PPGBM and Department of Genetics, UFRGS, Porto Alegre, Brazil., Faqueti L; BioDiscovery Laboratory and Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil., Iop G; BioDiscovery Laboratory and Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil., Soares J; BioDiscovery Laboratory and Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil., van der Linden V; Centro de Reabilitação Dr Henrique Santillo, Goiania, Brazil., van der Linden H; Centro de Reabilitação Dr Henrique Santillo, Goiania, Brazil., Lourenço CM; Centro Universitario Estacio, Ribeirão Preto, Brazil., Giugliani R; BioDiscovery Laboratory and Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.; INAGEMP, Porto Alegre, Brazil.; PPGCM, UFRGS, Porto Alegre, Brazil.; DASA, São Paulo, Brazil.; House of rares, Porto Alegre, Brazil.
Publikováno v:
Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2022 Jun 21; Vol. 32, pp. 100888. Date of Electronic Publication: 2022 Jun 21 (Print Publication: 2022).
Autor:
Bressán IG; Laboratory of Mass Spectrometry, Hospital Italiano de Buenos Aires, Buenos Aires, Argentina.; Department of Chemistry, Instituto Universitario Escuela de Medicina del Hospital Italiano, Buenos Aires, Argentina., Giménez MI; Laboratory of Mass Spectrometry, Hospital Italiano de Buenos Aires, Buenos Aires, Argentina.; Department of Clinical Biochemistry, Instituto Universitario Escuela de Medicina del Hospital Italiano, Buenos Aires, Argentina., Llesuy SF; Department of Chemistry, Instituto Universitario Escuela de Medicina del Hospital Italiano, Buenos Aires, Argentina.
Publikováno v:
Journal of mass spectrometry and advances in the clinical lab [J Mass Spectrom Adv Clin Lab] 2021 Feb 02; Vol. 19, pp. 7-19. Date of Electronic Publication: 2021 Feb 02 (Print Publication: 2021).