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Klinke Glynis; Richter Sylvia; Monostori Péter; Schmidt‐Mader Brigitte; García‐Cazorla Angels; Artuch Rafael; Christ Stine; Opladen Thomas; Hoffmann Georg F.; Blau Nenad; Okun Jürgen G.:
Targeted cerebrospinal fluid analysis for inborn errors of metabolism on an LC‐MS/MS analysis platform.
JOURNAL OF INHERITED METABOLIC DISEASE, 43 (4).
pp. 712-725.
ISSN 0141-8955
(2020)
Monostori Péter; Klinke Glynis; Hauke Jana; Richter Sylvia; Bierau Jörgen; Garbade Sven F.; Hoffmann Georg F.; Langhans Claus-Dieter; Haase Dorothea; Okun Jürgen G.:
Extended diagnosis of purine and pyrimidine disorders from urine: LC MS/MS assay development and clinical validation.
PLOS ONE, 14 (2).
Azonosító: e0212458-Terjedelem: 17 p.
ISSN 1932-6203
(2019)
Monostori Péter; Klinke Glynis; Richter Sylvia; Baráth Ákos; Fingerhut Ralf; Baumgartner Matthias R.; Kölker Stefan; Hoffmann Georg; Gramer Gwendolyn; Okun Jürgen G.:
Simultaneous determination of 3-hydroxypropionic acid, methylmalonic acid and methylcitric acid in dried blood spots: Second-tier LC-MS/MS assay for newborn screening of propionic acidemia, methylmalonic acidemias and combined remethylation disorders.
PLOS ONE, 12 (9).
Azonossító: e0184897-Terjedelem: 16 p.
ISSN 1932-6203
(2017)
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