Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Desiree E.C. Smith"'
Autor:
Anja Pfau, Karen I. López-Cayuqueo, Nora Scherer, Matthias Wuttke, Annekatrin Wernstedt, Daniela González Fassrainer, Desiree E.C. Smith, Jiddeke M. van de Kamp, Katharina Ziegeler, Kai-Uwe Eckardt, Friedrich C. Luft, Peter S. Aronson, Anna Köttgen, Thomas J. Jentsch, Felix Knauf
Publikováno v:
The Journal of Clinical Investigation, Vol 133, Iss 3 (2023)
Sulfate plays a pivotal role in numerous physiological processes in the human body, including bone and cartilage health. A role of the anion transporter SLC26A1 (Sat1) for sulfate reabsorption in the kidney is supported by the observation of hyposulf
Externí odkaz:
https://doaj.org/article/c70d5d8f3506419b8e69ebb496d32f97
Autor:
Monique E. Dijsselhof, Tom J. de Koning, Laura A. Tseng, Edward E. S. Nieuwenhuis, Elise A. Ferreira, Rachel Kassel, Margreet van den Born, Holger Rehmann, Sabine A. Fuchs, Gautam Kok, Imre F. Schene, Marie Canton, Suzanne W J Terheggen-Lagro, Arnaud Wiedemann, Joy Dean, Desiree E.C. Smith, Megan Boothe, Clara D.M. van Karnebeek, Gajja Salomons, François Feillet, Marisa I. Mendes
Publikováno v:
Genetics in Medicine
Genetics in medicine, 23(11), 2202-2207. Lippincott Williams and Wilkins
Kok, G, Tseng, L, Schene, I F, Dijsselhof, M E, Salomons, G, Mendes, M I, Smith, D E C, Wiedemann, A, Canton, M, Feillet, F, de Koning, T J, Boothe, M, Dean, J, Kassel, R, Ferreira, E A, van den Born, M, Nieuwenhuis, E E S, Rehmann, H, Terheggen-Lagro, S W J, van Karnebeek, C D M & Fuchs, S A 2021, ' Treatment of ARS deficiencies with specific amino acids ', Genetics in Medicine, vol. 23, no. 11, pp. 2202-2207 . https://doi.org/10.1038/s41436-021-01249-z
Genetics in Medicine, 23(11), 2202-2207. Lippincott Williams and Wilkins
Genetics in Medicine, 23(11), 2202-2207. Nature Publishing Group
Genetics in medicine, 23(11), 2202-2207. Lippincott Williams and Wilkins
Kok, G, Tseng, L, Schene, I F, Dijsselhof, M E, Salomons, G, Mendes, M I, Smith, D E C, Wiedemann, A, Canton, M, Feillet, F, de Koning, T J, Boothe, M, Dean, J, Kassel, R, Ferreira, E A, van den Born, M, Nieuwenhuis, E E S, Rehmann, H, Terheggen-Lagro, S W J, van Karnebeek, C D M & Fuchs, S A 2021, ' Treatment of ARS deficiencies with specific amino acids ', Genetics in Medicine, vol. 23, no. 11, pp. 2202-2207 . https://doi.org/10.1038/s41436-021-01249-z
Genetics in Medicine, 23(11), 2202-2207. Lippincott Williams and Wilkins
Genetics in Medicine, 23(11), 2202-2207. Nature Publishing Group
Purpose: Recessive cytosolic aminoacyl-tRNA synthetase (ARS) deficiencies are severe multiorgan diseases, with limited treatment options. By loading transfer RNAs (tRNAs) with their cognate amino acids, ARS are essential for protein translation. Howe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2012eaffda71bfe00609b875bbfe5f2b
http://europepmc.org/articles/PMC8244667
http://europepmc.org/articles/PMC8244667
Autor:
Florian Brinkert, Holger Prokisch, René Santer, Maja Hempel, Lara M. Marten, Desiree E.C. Smith
Publikováno v:
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 25, Iss, Pp 100681-(2020)
Molecular Genetics and Metabolism Reports, Vol 25, Iss, Pp 100681-(2020)
AARS1 deficiency belongs to the group of disorders affecting aminoacyl-tRNA synthetases. To date, AARS1 deficiency has only been linked to neurologic disorders. We report a 6-year-old girl with microcephaly and developmental delay who presented with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f70f36ce546cf94cae57162da9a4c7cc
http://europepmc.org/articles/PMC7691605
http://europepmc.org/articles/PMC7691605
Autor:
Lara M. Marten, Florian Brinkert, Desirée E.C. Smith, Holger Prokisch, Maja Hempel, René Santer
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 25, Iss , Pp 100681- (2020)
AARS1 deficiency belongs to the group of disorders affecting aminoacyl-tRNA synthetases. To date, AARS1 deficiency has only been linked to neurologic disorders. We report a 6-year-old girl with microcephaly and developmental delay who presented with
Externí odkaz:
https://doaj.org/article/42aaac435fe944d188832e1ad210f595