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Number of items: 14.

Pillai, Samyuktha Muralidharan; Seebeck, Petra; Fingerhut, Ralph; Huang, Ji; Ming, Xiu‐Fen; Yang, Zhihong; Verrey, François (2018). Kidney Mass Reduction Leads to l‐Arginine Metabolism‐Dependent Blood Pressure Increase in Mice. Journal of the American Heart Association, 7(5):e008025.

Nolting, Kristine; Park, Julien H; Tegtmeyer, Laura C; Zühlsdorf, Andrea; Grüneberg, Marianne; Rust, Stephan; Reunert, Janine; Du Chesne, Ingrid; Debus, Volker; Schulze-Bahr, Eric; Baxter, Robert C; Wada, Yoshinao; Thiel, Christian; van Schaftingen, Emile; Fingerhut, Ralph; Marquardt, Thorsten (2017). Limitations of galactose therapy in phosphoglucomutase 1 deficiency. Molecular Genetics and Metabolism Reports, 13:33-40.

Stinca, Sara; Andersson, Maria; Weibel, Sandra; Herter-Aeberli, Isabelle; Fingerhut, Ralph; Gowachirapant, Sueppong; Hess, Sonja Y; Jaiswal, Nidhi; Jukic, Tomislav; Kusic, Zvonko; Mabapa, Ngoako Solomon; Nepal, Ashwini Kumar; San Luis, Teofilo O L; Zhen, Jia Qing; Zimmermann, Michael Bruce (2017). Dried Blood Spot Thyroglobulin as a Biomarker of Iodine Status in Pregnant Women. Journal of Clinical Endocrinology & Metabolism, 102(1):23-32.

Allegri, Gabriella; Deplazes, Sereina; Grisch-Chan, Hiu Man; Mathis, Déborah; Fingerhut, Ralph; Häberle, Johannes; Thöny, Beat (2017). A simple dried blood spot-method for in vivo measurement of ureagenesis by gas chromatography–mass spectrometry using stable isotopes. Clinica Chimica Acta, 464:236-243.

Kemper, E A; Boelen, A; Bosch, A M; van Veen-Sijne, M; van Rijswijk, C N; Bouva, M J; Fingerhut, Ralph; Schielen, P C J I (2017). Establishing New Cut-Off Limits for Galactose 1-Phosphate-Uridyltransferase Deficiency for the Dutch Newborn Screening Programme. JIMD Reports, 32:1-6.

Monostori, Péter; Klinke, Glynis; Richter, Sylvia; Baráth, Ákos; Fingerhut, Ralph; Baumgartner, Matthias R; Kölker, Stefan; Hoffmann, Georg F; Gramer, Gwendolyn; Okun, Jürgen G (2017). 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):e0184897.

Diez-Fernandez, Carmen; Wellauer, Olivia; Gemperle, Corinne; Rüfenacht, Véronique; Fingerhut, Ralph; Häberle, Johannes (2016). Kinetic mutations in argininosuccinate synthetase deficiency: characterisation and in vitro correction by substrate supplementation. Journal of Medical Genetics, 53(10):710-719.

Forny, Patrick; Schumann, Anke; Mustedanagic, Merima; Mathis, Déborah; Wulf, Marie-Angela; Nägele, Nadine; Langhans, Claus-Dieter; Zhakupova, Assem; Heeren, Joerg; Scheja, Ludger; Fingerhut, Ralph; Peters, Heidi L; Hornemann, Thorsten; Thony, Beat; Kölker, Stefan; Burda, Patricie; Froese, D Sean; Devuyst, Olivier; Baumgartner, Matthias R (2016). Novel mouse models of methylmalonic aciduria recapitulate phenotypic traits with a genetic dosage effect. Journal of Biological Chemistry, 291(39):20563-20573.

Korner, Germaine; Noain, Daniela; Ying, Ming; Hole, Magnus; Flydal, Marte I; Scherer, Tanja; Allegri, Gabriella; Rassi, Anahita; Fingerhut, Ralph; Becu-Villalobos, Damasia; Pillai, Samyuktha; Wueest, Stephan; Konrad, Daniel; Lauber-Biason, Anna; Baumann, Christian R; Bindoff, Laurence A; Martinez, Aurora; Thöny, Beat (2015). Brain catecholamine depletion and motor impairment in a Th knock-in mouse with type B tyrosine hydroxylase deficiency. Brain, 138(10):2948-2963.

Guetg, Adriano; Mariotta, Luca; Bock, Lukas; Herzog, Brigitte; Fingerhut, Ralph; Camargo, Simone M R; Verrey, François (2015). Essential amino acid transporter Lat4 (Slc43a2) is required for mouse development. Journal of Physiology, 593(5):1273-1289.

Fingerhut, Ralph; Silva Polanco, Maria Lucia; Silva Arevalo, Gabriel De Jesus; Swiderska, Magdalena A (2014). First experience with a fully automated extraction system for simultaneous on-line direct tandem mass spectrometric analysis of amino acids and (acyl-)carnitines in a newborn screening setting. Rapid communications in mass spectrometry : RCM, 28(8):965-973.

Torresani, Toni; Fingerhut, Ralph; Rueegg, Corina S; Gallati, Sabina; Kuehni, Claudia E; Baumgartner, Matthias R; Barben, Juerg (2013). Newborn screening for cystic fibrosis in Switzerland--consequences after analysis of a 4 months pilot study. Journal of Cystic Fibrosis, 12(6):667-674.

Barben, Juerg; Gallati, Sabina; Fingerhut, Ralph; Schoeni, Martin H; Baumgartner, Matthias R; Torresani, Toni (2012). Retrospective analysis of stored dried blood spots from children with cystic fibrosis and matched controls to assess the performance of a proposed newborn screening protocol in Switzerland. Journal of Cystic Fibrosis, 11(4):332-336.

Gersting, Søren W; Lagler, Florian B; Eichinger, Anna; Kemter, Kristina F; Danecka, Marta K; Messing, Dunja D; Staudigl, Michael; Domdey, Katharina A; Zsifkovits, Clemens; Fingerhut, Ralph; Glossmann, Hartmut; Roscher, Adelbert A; Muntau, Ania C (2010). Pah enu1 is a mouse model for tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency and promotes analysis of the pharmacological chaperone mechanism in vivo. Human Molecular Genetics, 19(10):2039-2049.

This list was generated on Sun Dec 16 05:39:14 2018 CET.