Three successful pregnancies in a patient with glycogen storage disease type 0

le Grünert, Sarah C., Rosenbaum‐Fabian, Stefanie, Hannibal, Luciana, Schumann, Anke, Spiekerkötter, Ute
Foilsithe in JIMD Rep (2020)

Successful pregnancy in a woman with glycogen storage disease type 6

le Grünert, Sarah Catharina, Rosenbaum-Fabian, Stefanie, Hannibal, Luciana, Schumann, Anke, Spiekerkoetter, Ute
Foilsithe in Mol Genet Metab Rep (2021)

Successful pregnancy in maple syrup urine disease: a case report and review of the literature

le Grünert, Sarah Catharina, Rosenbaum-Fabian, Stefanie, Schumann, Anke, Schwab, Karl Otfried, Mingirulli, Nadja, Spiekerkoetter, Ute
Foilsithe in Nutr J (2018)

Identification and Characterization of a Novel Splice Site Mutation Associated with Glycogen Storage Disease Type VI in Two Unrelated Turkish Families

le Grünert, Sarah C., Hannibal, Luciana, Schumann, Anke, Rosenbaum-Fabian, Stefanie, Beck-Wödl, Stefanie, Haack, Tobias B., Grimmel, Mona, Bertrand, Miriam, Spiekerkoetter, Ute
Foilsithe in Diagnostics (Basel) (2021)

Improved inflammatory bowel disease, wound healing and normal oxidative burst under treatment with empagliflozin in glycogen storage disease type Ib

le Grünert, Sarah C., Elling, Roland, Maag, Bärbel, Wortmann, Saskia B., Derks, Terry G. J., Hannibal, Luciana, Schumann, Anke, Rosenbaum-Fabian, Stefanie, Spiekerkoetter, Ute
Foilsithe in Orphanet J Rare Dis (2020)

Elevated Plasma Vitamin B(12) in Patients with Hepatic Glycogen Storage Diseases

le Hinkel, Julia, Schmitt, Johannes, Wurm, Michael, Rosenbaum-Fabian, Stefanie, Schwab, Karl Otfried, Jacobsen, Donald W., Spiekerkoetter, Ute, Fedosov, Sergey N., Hannibal, Luciana, Grünert, Sarah C.
Foilsithe in J Clin Med (2020)

Effect of dietary regime on metabolic control in phenylketonuria: Is exact calculation of phenylalanine intake really necessary?

le Rohde, Carmen, Thiele, Alena Gerlinde, Och, Ulrike, Schönherr, Katrin, Meyer, Uta, Rosenbaum-Fabian, Stefanie, Maddalon, Cornelia, Matzken, Sabine, Blessing, Holger, Lang, Frauke, Jörg-Streller, Monika, Beblo, Skadi
Foilsithe in Mol Genet Metab Rep (2015)

Citrin deficiency mimicking mitochondrial depletion syndrome

le Grünert, 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, U.
Foilsithe in BMC Pediatr (2020)

Hepatorenal Tyrosinaemia: Impact of a Simplified Diet on Metabolic Control and Clinical Outcome

le Bärhold, Friederike, Meyer, Uta, Neugebauer, Anne-Kathrin, Thimm, Eva Maria, Lier, Dinah, Rosenbaum-Fabian, Stefanie, Och, Ulrike, Fekete, Anna, Möslinger, Dorothea, Rohde, Carmen, Beblo, Skadi, Hochuli, Michel, Bogovic, Nina, Korpel, Vanessa, vom Dahl, Stephan, Mayorandan, Sebene, Fischer, Aleksandra, Freisinger, Peter, Dokoupil, Katharina, Heddrich-Ellerbrok, Margret, Jörg-Streller, Monika, van Teeffelen-Heithoff, Agnes, Lahl, Janina, Das, Anibh Martin
Foilsithe in Nutrients (2020)

International practices in the dietary management of fructose 1-6 biphosphatase deficiency

le Pinto, A., Alfadhel, M., Akroyd, R., Atik Altınok, Y., Bernabei, S. M., Bernstein, L., Bruni, G., Caine, G., Cameron, E., Carruthers, R., Cochrane, B., Daly, A., de Boer, F., Delaunay, S., Dianin, A., Dixon, M., Drogari, E., Dubois, S., Evans, S., Gribben, J., Gugelmo, G., Heidenborg, C., Hunjan, I., Kok, I. L., Kumru, B., Liguori, A., Mayr, D., Megdad, E., Meyer, U., Oliveira, R. B., Pal, A., Pozzoli, A., Pretese, R., Rocha, J. C., Rosenbaum-Fabian, S., Serrano-Nieto, J., Sjoqvist, E., Timmer, C., White, L., van den Hurk, T., van Rijn, M., Zweers, H., Ziadlou, M., MacDonald, A.
Foilsithe in Orphanet J Rare Dis (2018)

Early feeding practices in infants with phenylketonuria across Europe

le A. Pinto, S. Adams, K. Ahring, H. Allen, M.F. Almeida, D. Garcia-Arenas, N. Arslan, M. Assoun, Y. Atik Altınok, D. Barrio-Carreras, A. Belanger Quintana, S.M. Bernabei, C. Bontemps, F. Boyle, G. Bruni, M. Bueno-Delgado, G. Caine, R. Carvalho, A. Chrobot, K. Chyż, B. Cochrane, C. Correia, K. Corthouts, A. Daly, S. De Leo, A. Desloovere, A. De Meyer, A. De Theux, B. Didycz, M.E. Dijsselhof, K. Dokoupil, J. Drabik, C. Dunlop, W. Eberle-Pelloth, K. Eftring, J. Ekengren, I. Errekalde, S. Evans, A. Foucart, L. Fokkema, L. François, M. French, E. Forssell, C. Gingell, C. Gonçalves, H. Gökmen Özel, A. Grimsley, G. Gugelmo, E. Gyüre, C. Heller, R. Hensler, I. Jardim, C. Joost, M. Jörg-Streller, C. Jouault, A. Jung, M. Kanthe, N. Koç, I.L. Kok, T. Kozanoğlu, B. Kumru, F. Lang, K. Lang, I. Liegeois, A. Liguori, R. Lilje, O. Ļubina, P. Manta-Vogli, D. Mayr, C. Meneses, C. Newby, U. Meyer, S. Mexia, C. Nicol, U. Och, S.M. Olivas, C. Pedrón-Giner, R. Pereira, K. Plutowska-Hoffmann, J. Purves, A. Re Dionigi, K. Reinson, M. Robert, L. Robertson, J.C. Rocha, C. Rohde, S. Rosenbaum-Fabian, A. Rossi, M. Ruiz, J. Saligova, A. Gutiérrez-Sánchez, A. Schlune, K. Schulpis, J. Serrano-Nieto, A. Skarpalezou, R. Skeath, A. Slabbert, K. Straczek, M. Giżewska, A. Terry, R. Thom, A. Tooke, J. Tuokkola, E. van Dam, T.A.M. van den Hurk, E.M.C. van der Ploeg, K. Vande Kerckhove, M. Van Driessche, A.M.J. van Wegberg, K. van Wyk, C. Vasconcelos, V. Velez García, J. Wildgoose, T. Winkler, J. Żółkowska, J. Zuvadelli, A. MacDonald
Foilsithe 2018-09-01

Early feeding practices in infants with phenylketonuria across Europe

le Pinto, A., Adams, S., Ahring, K., Allen, H., Almeida, M.F., Garcia-Arenas, D., Arslan, N., Assoun, M., Atik Altınok, Y., Barrio-Carreras, D., Belanger Quintana, A., Bernabei, S.M., Bontemps, C., Boyle, F., Bruni, G., Bueno-Delgado, M., Caine, G., Carvalho, R., Chrobot, A., Chyż, K., Cochrane, B., Correia, C., Corthouts, K., Daly, A., De Leo, S., Desloovere, A., De Meyer, A., De Theux, A., Didycz, B., Dijsselhof, M.E., Dokoupil, K., Drabik, J., Dunlop, C., Eberle-Pelloth, W., Eftring, K., Ekengren, J., Errekalde, I., Evans, S., Foucart, A., Fokkema, L., François, L., French, M., Forssell, E., Gingell, C., Gonçalves, C., Gökmen Özel, H., Grimsley, A., Gugelmo, G., Gyüre, E., Heller, C., Hensler, R., Jardim, I., Joost, C., Jörg-Streller, M., Jouault, C., Jung, A., Kanthe, M., Koç, N., Kok, I.L., Kozanoğlu, T., Kumru, B., Lang, F., Lang, K., Liegeois, I., Liguori, A., Lilje, R., Ļubina, O., Manta-Vogli, P., Mayr, D., Meneses, C., Newby, C., Meyer, U., Mexia, S., Nicol, C., Och, U., Olivas, S.M., Pedrón-Giner, C., Pereira, R., Plutowska-Hoffmann, K., Purves, J., Re Dionigi, A., Reinson, K., Robert, M., Robertson, L., Rocha, J.C., Rohde, C., Rosenbaum-Fabian, S., Rossi, A., Ruiz, M., Saligova, J., Gutiérrez-Sánchez, A., Schlune, A., Schulpis, K., Serrano-Nieto, J., Skarpalezou, A., Skeath, R., Slabbert, A., Straczek, K., Giżewska, M., Terry, A., Thom, R., Tooke, A., Tuokkola, J., van Dam, E., van den Hurk, T.A.M., van der Ploeg, E.M.C., Vande Kerckhove, K., Van Driessche, M., van Wegberg, A.M.J., van Wyk, K., Vasconcelos, C., Velez García, V., Wildgoose, J., Winkler, T., Żółkowska, J., Zuvadelli, J., MacDonald, A.
Foilsithe in Mol Genet Metab Rep (2018)

Weaning practices in phenylketonuria vary between health professionals in Europe

le Pinto, A., Adams, S., Ahring, K., Allen, H., Almeida, M.F., Garcia-Arenas, D., Arslan, N., Assoun, M., Atik Altınok, Y., Barrio-Carreras, D., Belanger Quintana, A., Bernabei, S.M., Bontemps, C., Boyle, F., Bruni, G., Bueno-Delgado, M., Caine, G., Carvalho, R., Chrobot, A., Chyż, K., Cochrane, B., Correia, C., Corthouts, K., Daly, A., De Leo, S., Desloovere, A., De Meyer, A., De Theux, A., Didycz, B., Dijsselhof, M.E., Dokoupil, K., Drabik, J., Dunlop, C., Eberle-Pelloth, W., Eftring, K., Ekengren, J., Errekalde, I., Evans, S., Foucart, A., Fokkema, L., François, L., French, M., Forssell, E., Gingell, C., Gonçalves, C., Gökmen Özel, H., Grimsley, A., Gugelmo, G., Gyüre, E., Heller, C., Hensler, R., Jardim, I., Joost, C., Jörg-Streller, M., Jouault, C., Jung, A., Kanthe, M., Koç, N., Kok, I.L., Kozanoğlu, T., Kumru, B., Lang, F., Lang, K., Liegeois, I., Liguori, A., Lilje, R., Ļubina, O., Manta-Vogli, P., Mayr, D., Meneses, C., Newby, C., Meyer, U., Mexia, S., Nicol, C., Och, U., Olivas, S.M., Pedrón-Giner, C., Pereira, R., Plutowska-Hoffmann, K., Purves, J., Re Dionigi, A., Reinson, K., Robert, M., Robertson, L., Rocha, J.C., Rohde, C., Rosenbaum-Fabian, S., Rossi, A., Ruiz, M., Saligova, J., Gutiérrez-Sánchez, A., Schlune, A., Schulpis, K., Serrano-Nieto, J., Skarpalezou, A., Skeath, R., Slabbert, A., Straczek, K., Giżewska, M., Terry, A., Thom, R., Tooke, A., Tuokkola, J., van Dam, E., van den Hurk, T.A.M., van der Ploeg, E.M.C., Vande Kerckhove, K., Van Driessche, M., van Wegberg, A.M.J., van Wyk, K., Vasconcelos, C., Velez García, V., Wildgoose, J., Winkler, T., Żółkowska, J., Zuvadelli, J., MacDonald, A.
Foilsithe in Mol Genet Metab Rep (2018)