Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Julie de Sousa"'
Autor:
Štěpán Kouřil, Julie de Sousa, Kamila Fačevicová, Alžběta Gardlo, Christoph Muehlmann, Klaus Nordhausen, David Friedecký, Tomáš Adam
Publikováno v:
International Journal of Neonatal Screening, Vol 9, Iss 4, p 60 (2023)
Newborn screening (NBS) of inborn errors of metabolism (IEMs) is based on the reference ranges established on a healthy newborn population using quantile statistics of molar concentrations of biomarkers and their ratios. The aim of this paper is to i
Externí odkaz:
https://doaj.org/article/89ccb69f7eae4ccfb60f038c4c3f3a3f
Autor:
Jan Václavík, Lucie Mádrová, Štěpán Kouřil, Julie de Sousa, Radana Brumarová, Hana Janečková, Jaroslava Jáčová, David Friedecký, Mária Knapková, Leo A. J. Kluijtmans, Sarah C. Grünert, Frédéric M. Vaz, Nils Janzen, Ronald J. A. Wanders, Ron A. Wevers, Tomáš Adam
Publikováno v:
JIMD Reports, Vol 54, Iss 1, Pp 79-86 (2020)
Abstract 3‐Hydroxy‐3‐methylglutaryl‐coenzyme A lyase deficiency (HMGCLD) is a rare autosomal recessively inherited metabolic disorder. Patients suffer from avoidable neurologically devastating metabolic decompensations and thus would benefit
Externí odkaz:
https://doaj.org/article/b5582d80f6c3422c85eb47b0a2933ea4
Autor:
Lucie Mádrová, Olga Součková, Radana Brumarová, Dana Dobešová, Jan Václavík, Štěpán Kouřil, Julie de Sousa, Jaroslava Friedecká, David Friedecký, Veronika Barešová, Marie Zikánová, Tomáš Adam
Publikováno v:
Metabolites, Vol 12, Iss 3, p 241 (2022)
Three genetically determined enzyme defects of purine de novo synthesis (PDNS) have been identified so far in humans: adenylosuccinate lyase (ADSL) deficiency, 5-amino-4-imidazole carboxamide-ribosiduria (AICA-ribosiduria), and deficiency in bifuncti
Externí odkaz:
https://doaj.org/article/c5b3d625bd1947d688de40048b640354
Publikováno v:
Analytica Chimica Acta. 1097:49-61
Clinical metabolomics aims at finding statistically significant differences in metabolic statuses of patient and control groups with the intention of understanding pathobiochemical processes and identification of clinically useful biomarkers of parti
Autor:
Sarah C. Grünert, Julie de Sousa, Tomáš Adam, Lucie Mádrová, Jan Václavík, Radana Brumarová, Štěpán Kouřil, Jaroslava Jáčová, Mária Knapková, David Friedecký, Leo A. J. Kluijtmans, Nils Janzen, Frédéric M. Vaz, Ronald J.A. Wanders, Hana Janečková, Ron A. Wevers
Publikováno v:
Jimd Reports, 54, 79-86
JIMD reports, 54(1), 79-86. Springer Berlin
Jimd Reports, 54, 1, pp. 79-86
JIMD Reports
JIMD Reports, Vol 54, Iss 1, Pp 79-86 (2020)
JIMD reports, 54(1), 79-86. Springer Berlin
Jimd Reports, 54, 1, pp. 79-86
JIMD Reports
JIMD Reports, Vol 54, Iss 1, Pp 79-86 (2020)
Contains fulltext : 225031.pdf (Publisher’s version ) (Open Access) 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency (HMGCLD) is a rare autosomal recessively inherited metabolic disorder. Patients suffer from avoidable neurologically devastat
Un livre pour passer vraiment en mode collaboratif Comment activer l'intelligence collective pour explorer un sujet, co-construire une vision, trouver de nouvelles idées ou élaborer un plan d'action?Ce livre propose 117 jeux et 13 déroulés types
Publikováno v:
Bioinformatics. 36:2941-2942
Summary Untargeted liquid chromatography–high-resolution mass spectrometry analysis produces a large number of features which correspond to the potential compounds in the sample that is analyzed. During the data processing, it is necessary to merge