Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Simona Murko"'
Autor:
Simona Murko, Asra Dadkhah Aseman, Friederike Reinhardt, Gwendolyn Gramer, Jürgen Günther Okun, Ulrike Mütze, René Santer
Publikováno v:
JIMD Reports, Vol 64, Iss 1, Pp 114-120 (2023)
Abstract Newborn screening (NBS) for isovaleric acidemia (IVA) is performed by flow injection tandem mass spectrometry quantifying C5 carnitines (C5). Isovalerylcarnitine, however, is isomeric with pivaloylcarnitine which can be present in blood due
Externí odkaz:
https://doaj.org/article/d64f6f1ad0a343af9d17e4700b645e82
Autor:
Simona Murko, Manuela Peschka, Konstantinos Tsiakas, Sebastian Schulz-Jürgensen, Uta Herden, René Santer
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 35, Iss , Pp 100977- (2023)
We report on liver transplantation in two patients with GSD Ib on treatment with empagliflozin. The use of this SGLT2 inhibitor resulted in a marked decrease of 1,5-anhydroglucitol which has an important role in the development of neutropenia in this
Externí odkaz:
https://doaj.org/article/e049a4635f7e47b9a9cc6f2834fe2e5d
Publikováno v:
Journal of the Serbian Chemical Society, Vol 75, Iss 1, Pp 113-128 (2010)
The applicability of nitric acid, palladium nitrate and a mixture of palladium and magnesium nitrate as matrix modifiers were estimated for the accurate and reproducible determination of cadmium (Cd), lead (Pb) and arsenic (As) in sediments of the Sa
Externí odkaz:
https://doaj.org/article/9c7b7c529cdb4afa854675e4b3a5c6ed
Autor:
Simona Murko, Asra Dadkhah Aseman, Friederike Reinhardt, Gwendolyn Gramer, Jürgen Günther Okun, Ulrike Mütze, René Santer
Publikováno v:
JIMD Reports. 64:114-120
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::da12be524f062f4705929fdaff51c79d
https://doi.org/10.1002/jmd2.12345
https://doi.org/10.1002/jmd2.12345
Autor:
Paulina Nieves Cobos, Alfried Kohlschütter, Angela Schulz, Miriam Nickel, René Santer, Simona Murko, Zoltan Lukacs
Publikováno v:
Clinica Chimica Acta. 492:69-71
Purpose CLN2 disease is a genetic disorder caused by dysfunction of the lysosomal enzyme tripeptidyl peptidase 1 (TPP1) that belongs to the neuronal ceroid lipofuscinoses (NCL) and leads to epilepsy, dementia, and death in young persons. CLN2 disease
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d09f4563d7ceba27174e93e433f111c
https://doi.org/10.1016/j.cca.2019.02.010
https://doi.org/10.1016/j.cca.2019.02.010
Autor:
Vanja Cuk, Barbka Repic Lampret, Urh Groselj, Mojca Zerjav Tansek, Simona Murko, Andraz Smon, Tadej Battelino, Jernej Brecelj
Publikováno v:
Clinica chimica acta; international journal of clinical chemistry. 495
Precise quantification of amino acids (AAs) is mandatory for successful diagnosis and monitoring of patients with metabolic diseases. We compared ion-exchange chromatography (IEC) and liquid chromatography with tandem mass spectrometry (LC-MS/MS), th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4702961ea723daad0bd9248e0e0bfdd0
https://pubmed.ncbi.nlm.nih.gov/31077651
https://pubmed.ncbi.nlm.nih.gov/31077651
Autor:
Petra Oliva, René Santer, Thomas Wiesinger, Markus Schwarz, Annette Bley, Berthold Streubel, Simona Murko, Thomas P. Mechtler, David C. Kasper, Mirko M. Essing, Charlotte Chanson
Publikováno v:
Molecular Genetics and Metabolism. 132:S112
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0771d13ede0b3438ae5b5fb59090bbe2
https://doi.org/10.1016/j.ymgme.2020.12.275
https://doi.org/10.1016/j.ymgme.2020.12.275
Autor:
Petja Fister, Mojca Zerjav Tansek, Barbka Repic Lampret, Simona Murko, Maruša Debeljak, Tadej Battelino
Publikováno v:
Biochemia Medica
Volume 25
Issue 2
Volume 25
Issue 2
Background: Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is a rare inherited mitochondrial fatty acid oxidation disorder associated with variations in the ACADS (Acyl-CoA dehydrogenase, C-2 to C-3 short chain) gene. SCADD has highly variable
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98bd81fca8011f3f2a8c363286892cbe
https://doi.org/10.11613/bm.2015.029
https://doi.org/10.11613/bm.2015.029
Autor:
Barbka Repic Lampret, Mariana Muresan, Husref Tahirović, Maria Ivanova, Maja Stojiljkovic, Mojca Zerjav Tansek, Mira Samardzic, Adil Kadam, Tadej Battelino, Otilia Margineanu, Urh Groselj, Oana Marginean, Florentina Moldovanu, Vjosa Kotori, Michaela Iuliana Nanu, Simona Murko, Ivo Barić, Olivera Milijanovic, Natalija Angelkova, Dana Anton, Vladimir Sarnavka, Alma Toromanovic, Radka Tincheva, Aleksei Savov, Natalia Usurelu, Maja Djordjevic, Biljana Suzic, Hajrija Maksic, Andraz Smon, Lindita Grimci
Publikováno v:
Molecular Genetics and Metabolism. 113:42-45
The aim of our study was to assess the current state of newborn screening (NBS) in the region of southeastern Europe, as an example of a developing region, focusing also on future plans. Responses were obtained from 11 countries. Phenylketonuria scre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d48bdfca6067b7f131d7470e65c1549
https://doi.org/10.1016/j.ymgme.2014.07.020
https://doi.org/10.1016/j.ymgme.2014.07.020
Autor:
Simona Murko, Zoltan Lukacs, Angela Schulz, Paulina Nieves Cobos, Alfried Kohlschütter, René Santer, Miriam Nickel
Publikováno v:
Molecular Genetics and Metabolism. 126:S96
CLN2 disease is a lysosomal storage disorder that belongs to the neuronal ceroid lipofuscinoses (NCL) and progressively leads to dementia, blindness and early death. It is caused by a deficiency of the lysosomal enzyme tripeptidyl peptidase 1 (TPP1).
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a7d17ae8f9a056db0d3bb52585ba26f3
https://doi.org/10.1016/j.ymgme.2018.12.239
https://doi.org/10.1016/j.ymgme.2018.12.239