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Citrin deficiency mimicking mitochondrial depletion syndromeGrünert, S C ; Schumann, A ; Freisinger, P ; Rosenbaum-Fabian, S ; Schmidts, M ; Mueller, A J ; Beck-Wödl, S ; Haack, T B ; Schneider, H ; Fuchs, H ; Teufel, U ; Gramer, G ; Hannibal, L ; Spiekerkoetter, UBMC pediatrics, 2020-11, Vol.20 (1), p.518-518, Article 518 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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Material Type: Artigo
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Newborn screening for homocystinurias: recent recommendations versus current practiceKeller, 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, MJournal of inherited metabolic disease, 2018-06, p.1-12 [Periódico revisado por pares]United States: Blackwell Publishing LtdTexto completo disponível |
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Material Type: Artigo
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Pharmacokinetics of tetrahydrobiopterin following oral loadings with three single dosages in patients with phenylketonuriaGramer, G. ; Garbade, S. F. ; Blau, N. ; Lindner, M.Journal of inherited metabolic disease, 2009-02, Vol.32 (1), p.52-57 [Periódico revisado por pares]Dordrecht: Springer NetherlandsTexto completo disponível |
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Material Type: Artigo
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Blood phenylalanine concentrations in patients with PAH-deficient hyperphenylalaninaemia off diet without and with three different single oral doses of tetrahydrobiopterin: Assessing responsiveness in a model of statistical process controlLindner, M. ; Gramer, G. ; Garbade, S. F. ; Burgard, P.Journal of inherited metabolic disease, 2009-08, Vol.32 (4), p.514-522 [Periódico revisado por pares]Dordrecht: Springer NetherlandsTexto completo disponível |
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Material Type: Artigo
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Früherkennung eines Vitamin-B12-Mangels im NeugeborenenscreeningGramer, G. ; Hoffmann, G. F.Monatsschrift Kinderheilkunde, 2018-02, Vol.166 (2), p.152-153 [Periódico revisado por pares]Munich: Springer MedizinTexto completo disponível |
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Material Type: Artigo
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Effects and clinical significance of tetrahydrobiopterin supplementation in phenylalanine hydroxylase‐deficient hyperphenylalaninaemiaGramer, G. ; Burgard, P. ; Garbade, S. F. ; Lindner, M.Journal of inherited metabolic disease, 2007-08, Vol.30 (4), p.556-562 [Periódico revisado por pares]Dordrecht: Springer NetherlandsTexto completo disponível |
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Material Type: Artigo
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50 Jahre Neugeborenenscreening in Deutschland: Bisherige Ergebnisse und zukünftige HerausforderungenGramer, G. ; Nennstiel-Ratzel, U. ; Hoffmann, G. F.Monatsschrift Kinderheilkunde, 2018-11, Vol.166 (11), p.987-993 [Periódico revisado por pares]Munich: Springer MedizinTexto completo disponível |
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Material Type: Artigo
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Neugeborenenscreening auf schweren kombinierten ImmundefektHauck, F. ; Albert, M. H. ; Ghosh, S. ; Hönig, M. ; Nennstiel, U. ; Schütz, C. ; Gramer, G. ; Schulz, A. ; Speckmann, C.Monatsschrift Kinderheilkunde, 2022, Vol.170 (4), p.328-334 [Periódico revisado por pares]Heidelberg: Springer MedizinTexto completo disponível |
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Material Type: Artigo
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Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Surveyvan Wegberg, Annemiek M.J. ; Trefz, Friedrich ; Gizewska, Maria ; Ahmed, Sibtain ; Chabraoui, Layachi ; van Spronsen, Francjan J. ; Al Mutairi, F. ; Arnoux, J.B. ; Ballhausen, D. ; Baruteau, J. ; Bernstein, L. ; Bijarnia-Mahay, S. ; Bordugo, A. ; Brodosi, L. ; Brooks, S. ; Chew, H.B. ; Chyz, K. ; Coker, M. ; Collingwood, C. ; Cornejo, V. ; Cozens, A. ; Das, A.M. ; de las Heras Montero, J. ; Debray, F.G. ; Dercksen, M. ; Descartes, M. ; Eminoglu, F.T. ; Enns, G.M. ; Ford, S. ; Freisinger, P. ; Grafakou, O. ; Gramer, G. ; Gray, S. ; Groselj, U. ; Grünert, S.C. ; Haas, D. ; Handoom, B. ; Harte, T.B. ; Hendriksz, C. ; Hoi-Yee Wu, T. ; Jamuar, S.S. ; Jonsson, J.J. ; Jovanovic, A. ; Kern, I. ; Kilavuz, S. ; Knerr, I. ; Korycinska-Chaaban, D. ; Kreile, M. ; Kumru, B. ; Lanpher, B. ; Lapatto, R. ; Leao-Teles, E. ; Leuzzi, V. ; Longo, N. ; Lopez-Uriarte, A. ; Lubout, C.M.A. ; MacDonald, A. ; Mitchell, J. ; Mochel, F. ; Morris, A. ; Moura de Souza, C.F. ; Munoz, T. ; Oscarson, M. ; Õunap, K. ; Paci, S. ; Pastores, G.M. ; Pearl, P.L. ; Pitt, J. ; Poon, G. ; Presner, N. ; Rabaty, A.A. ; Reinson, K. ; Reismann, P. ; Rink, T. ; Rocha, J.C. ; Rodrigues, E. ; Saini, A.G. ; Sander, J. ; Schwartz, I.V.D. ; Sharma, R. ; Siriwardena, K. ; Sirrs, S. ; Sjarif, D.R. ; Sondheimer, N. ; Sparkes, R. ; Specola, N. ; Stepien, K.M. ; Szatmari, I. ; Tchan, M. ; Valle, M.G. ; Vela-Amieva, M. ; Verdaguer, M.L. ; Vergano, S.A. ; Vermeersch, P. ; Wagenmakers, M.A.E.M. ; Weinhold, N. ; Wilson, W.G. ; Zafeiriou, D. ; Zhang, H. ; Ziagaki, A.The Journal of pediatrics, 2021-12, Vol.239, p.231-234.e2 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Pseudoexfoliationssyndrom: Fehlen der zentralen Zone des Pseudoexfoliations-Materials bei Patienten mit Pseudophakie – eine klinische StudieReiter, C. ; Gramer, E. ; Gramer, G.Klinische Monatsblätter für Augenheilkunde, 2012-03, Vol.229 (3), p.241-245 [Periódico revisado por pares]Texto completo disponível |