Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010
Loeber, J Gerard, Platis, Dimitris, Zetterström, Rolf H, Almashanu, Shlomo, Boemer, François, Bonham, James R, Borde, Patricia, Brincat, Ian, Cheillan, David, Dekkers, Eugenie, Dimitrov, Dobry, Fingerhut, Ralph, Franzson, Leifur, Groselj, Urh, Hougaard, David, Knapkova, Maria, Kocova, Mirjana, Kotori, Vjosa, Kozich, Viktor, Kremezna, Anastasiia, Kurkijärvi, Riikka, La Marca, Giancarlo, Mikelsaar, Ruth, Milenkovic, Tatjana, Mitkin, Vyacheslav, Moldovanu, Florentina, Ceglarek, Uta, O'Grady, Loretta, Oltarzewski, Mariusz, Pettersen, Rolf D, Ramadza, Danijela, Salimbayeva, Damilya, Samardzic, Mira, Shamsiddinova, Markhabo, Songailiené, Jurgita, Szatmari, Ildiko, Tabatadze, Nazi, Tezel, Basak, Toromanovic, Alma, Tovmasyan, Irina, Usurelu, Natalia, Vevere, Parsla, Vilarinho, Laura, Vogazianos, Marios, Yahyaoui, Raquel, Zeyda, Maximilian, Schielen, Peter C J I
Published in International journal of neonatal screening (05.03.2021)
Published in International journal of neonatal screening (05.03.2021)
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Regulatory landscape of providing information on newborn screening to parents across Europe
Franková, Věra, Driscoll, Riona O, Jansen, Marleen E, Loeber, J Gerard, Kožich, Viktor, Bonham, James, Borde, Patricia, Brincat, Ian, Cheillan, David, Dekkers, Eugenie, Fingerhut, Ralph, Kuš, Iva Bilandžija, Girginoudis, Panagiotis, Groselj, Urh, Hougaard, David, Knapková, Mária, la Marca, Giancarlo, Malniece, Ieva, Nanu, Michaela Iuliana, Nennstiel, Uta, Olkhovych, Nataliia, Oltarzewski, Mariusz, Pettersen, Rolf D, Racz, Gabor, Reinson, Karit, Salimbayeva, Damilya, Songailiene, Jurgita, Vilarinho, Laura, Vogazianos, Marios, Zetterström, Rolf H, Zeyda, Maximilian
Published in European journal of human genetics : EJHG (01.01.2021)
Published in European journal of human genetics : EJHG (01.01.2021)
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Fundamentals of the dwarf fundamental plane
McCall, M. L., Vaduvescu, O., Pozo Nunez, F., Barr Dominguez, A., Fingerhut, R., Unda-Sanzana, E., Li, B., Albrecht, M.
Published in Astronomy and astrophysics (Berlin) (01.04.2012)
Published in Astronomy and astrophysics (Berlin) (01.04.2012)
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Positive effect of a simplified diet on blood phenylalanine control in different phenylketonuria variants, characterized by newborn BH4 loading test and PAH analysis
Zimmermann, M., Jacobs, P., Fingerhut, R., Torresani, T., Thöny, B., Blau, N., Baumgartner, M.R., Rohrbach, M.
Published in Molecular genetics and metabolism (01.07.2012)
Published in Molecular genetics and metabolism (01.07.2012)
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Classic Congenital Adrenal Hyperplasia due to 21-Hydroxylase-Deficiency: 13 Years of Neonatal Screening and Follow-up in Bavaria
Odenwald, B, Dörr, H-G, Bonfig, W, Schmidt, H, Fingerhut, R, Wildner, M, Nennstiel-Ratzel, U
Published in Klinische Padiatrie (01.09.2015)
Published in Klinische Padiatrie (01.09.2015)
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Newborn screening for homocystinurias: recent recommendations versus current practice
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, Garcia Jimenez, I, Gonzalez Gallego, I, González-Irazabal, Y, Gramer, G, Juan Fita, M J, Karg, E, Klein, J, Konstantopoulou, V, la Marca, G, Leão Teles, E, Leuzzi, V, Lilliu, F, Lopez, R M, Lund, A M, Mayne, P, Meavilla, S, Moat, S J, Okun, J G, Pasquini, E, Pedron-Giner, C, Racz, G Z, Ruiz Gomez, M A, Vilarinho, L, Yahyaoui, R, Zerjav Tansek, M, Zetterström, R H, Zeyda, M
Published in Journal of inherited metabolic disease (15.06.2018)
Published in Journal of inherited metabolic disease (15.06.2018)
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ePS01.2 Newborn screening for cystic fibrosis in Switzerland – Evaluation after 5 years
Jurca, M, Kuehni, C.E, Rueegg, C.S, Fingerhut, R, Gallati, S, Torresani, T, Baumgartner, M, Barben, J
Published in Journal of cystic fibrosis (01.06.2016)
Published in Journal of cystic fibrosis (01.06.2016)
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Maple syrup urine disease: Favourable effect of early diagnosis by newborn screening on the neonatal course of the disease
Simon, E., Fingerhut, R., Baumkötter, J., Konstantopoulou, V., Ratschmann, R., Wendel, U.
Published in Journal of inherited metabolic disease (01.08.2006)
Published in Journal of inherited metabolic disease (01.08.2006)
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Journal Article
WS11.3 Newborn screening for cystic fibrosis in Switzerland – performance after 4 years
Jurca, M, Kuehni, C.E, Rueegg, C.S, Fingerhut, R, Gallati, S, Torresani, T, Baumgartner, M, Barben, J
Published in Journal of cystic fibrosis (01.06.2015)
Published in Journal of cystic fibrosis (01.06.2015)
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Journal Article
Diagnosis of glutathione synthetase deficiency in newborn screening
Simon, E., Vogel, M., Fingerhut, R., Ristoff, E., Mayatepek, E., Spiekerkötter, U.
Published in Journal of inherited metabolic disease (01.12.2009)
Published in Journal of inherited metabolic disease (01.12.2009)
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Journal Article
15 National newborn screening for cystic fibrosis in Switzerland – a parents’ perspective
Rueegg, C.S, Barben, J, Hafen, G.M, Moeller, A, Gallati, S, Torresani, T, Baumgartner, M, Fingerhut, R, Kuehni, C.E
Published in Journal of cystic fibrosis (01.06.2014)
Published in Journal of cystic fibrosis (01.06.2014)
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Journal Article
WS11.3 Change of algorithm in the CF centers influences the amount of equivocal CF diagnoses in the newborn screening program in Switzerland
Rueegg, C.S, Spalinger, J, Hafen, G.M, Moeller, A, Gallati, S, Kuehni, C.E, Torresani, T, Baumgartner, M, Fingerhut, R, Barben, J
Published in Journal of cystic fibrosis (01.06.2014)
Published in Journal of cystic fibrosis (01.06.2014)
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Journal Article
WS21.4 Newborn screening for cystic fibrosis in Switzerland – evaluation after one year
Barben, J, Gallati, S, Fingerhut, R, Schoeni, M.H, Kuehni, C, Baumgartner, M, Torresani, T
Published in Journal of cystic fibrosis (01.06.2012)
Published in Journal of cystic fibrosis (01.06.2012)
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Journal Article
Validation of MCADD newborn screening
Maier, EM, Pongratz, J, Muntau, AC, Liebl, B, Nennstiel-Ratzel, U, Busch, U, Fingerhut, R, Olgemöller, B, Roscher, AA, Röschinger, W
Published in Clinical genetics (01.08.2009)
Published in Clinical genetics (01.08.2009)
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Hepatic Carnitine Palmitoyltransferase I Deficiency: Acylcarnitine Profiles in Blood Spots Are Highly Specific
Fingerhut, Ralph, Roschinger, Wulf, Muntau, Ania C, Dame, Torsten, Kreischer, Jens, Arnecke, Ralf, Superti-Furga, Andrea, Troxler, Heinz, Liebl, Bernhard, Olgemoller, Bernhard, Roscher, Adelbert A
Published in Clinical chemistry (Baltimore, Md.) (01.10.2001)
Published in Clinical chemistry (Baltimore, Md.) (01.10.2001)
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Establishing New Cut-Off Limits for Galactose 1-Phosphate-Uridyltransferase Deficiency for the Dutch Newborn Screening Program
Kemper, E. A., Boelen, A., Bosch, A. M., van Veen-Sijne, M., van Rijswijk, C. N., Bouva, M. J., Fingerhut, R., Schielen, P. C. J. I.
Published in JIMD Reports, Volume 32 (01.01.2017)
Published in JIMD Reports, Volume 32 (01.01.2017)
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