Maintenance Infos

Browse by Creators

Navigate back| Up a level
Export as
Number of items: 12.

Keller, R; Chrastina, P; Pavlíková, M; Gouveia, S; Ribes, A; Kölker, S; Blom, H J; Baumgartner, M R; Bártl, J; Dionisi Vici, C; Gleich, F; Morris, A A; Kožich, V; Huemer, M; Barić, I; Ben-Omran, T; Blasco-Alonso, J; Bueno Delgado, M A; Carducci, C; Cassanello, M; Cerone, R; Couce, M L; Crushell, E; Delgado Pecellin, C; Dulin, E; Espada, M; Ferino, G; Fingerhut, R; et al (2018). Newborn screening for homocystinurias: recent recommendations versus current practice. Journal of Inherited Metabolic Disease:Epub ahead of print.

Fingerhut, R; Torresani, T (2013). Determination of total galactose from dried blood spots—extensive assay evaluation of a CE-marked test-kit. Journal of Analytical Sciences, Methods and Instrumentation, 3(3):163-166.

Fingerhut, R; Torresani, T (2013). Evaluation of the genetic screening processor (GSP™) for newborn screening. Analytical Methods, 5:4769-4776.

Zimmermann, M; Jacobs, P; Fingerhut, R; Torresani, T; Thöny, B; Blau, N; Baumgartner, M R; Rohrbach, M (2012). Positive effect of a simplified diet on blood phenylalanine control in different phenylketonuria variants, characterized by newborn BH4 loading test and PAH analysis. Molecular Genetics and Metabolism, 106(3):264-268.

Ensenauer, R; Fingerhut, R; Maier, E M; Polanetz, R; Olgemöller, B; Röschinger, W; Muntau, A C (2011). Newborn screening for isovaleric acidemia using tandem mass spectrometry: data from 1.6 million newborns. Clinical Chemistry, 57(4):623-626.

Fingerhut, R; De Jesus Silva Arevalo, G; Baumgartner, M R; Häberle, J; Rohrbach, M; Figueroa, A W; Fresse, E M; Polanco, O L; Torresani, T (2010). Postprandial changes of amino acid and acylcarnitine concentrations in dried blood samples. Journal of Inherited Metabolic Disease, 33(Sup 2):S235-S239.

Fingerhut, R; Dame, T; Olgemöller, B (2009). Determination of EDTA in dried blood samples by tandem mass spectrometry avoids serious errors in newborn screening. European Journal of Pediatrics, 168(5):553-558.

Fingerhut, R (2009). False positive rate in newborn screening for congenital adrenal hyperplasia (CAH)-ether extraction reveals two distinct reasons for elevated 17alpha-hydroxyprogesterone (17-OHP) values. Steroids, 74(8):662-665.

Fingerhut, R; Olgemöller, B (2009). Newborn screening for inborn errors of metabolism and endocrinopathies: an update. Analytical and Bioanalytical Chemistry, 393(5):1481-1497.

Fingerhut, R (2009). Recall rate and positive predictive value of MSUD screening is not influenced by hydroxyproline. European Journal of Pediatrics, 168(5):599-604.

Fingerhut, R; Ensenauer, R; Röschinger, W; Arnecke, R; Olgemöller, B; Roscher, A A (2009). Stability of acylcarnitines and free carnitine in dried blood samples: implications for retrospective diagnosis of inborn errors of metabolism and neonatal screening for carnitine transporter deficiency. Analytical Chemistry, 81(9):3571-3575.

Maier, E M; Pongratz, J; Muntau, A C; Liebl, B; Nennstiel-Ratzel, U; Busch, U; Fingerhut, R; Olgemöller, B; Roscher, A A; Röschinger, W (2009). Validation of MCADD newborn screening. Clinical Genetics, 76(2):179-187.

This list was generated on Tue Apr 23 00:55:55 2019 CEST.