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MacDonald, A., van Rijn, M., Feillet, F., Lund, A.M., Bernstein, L., Bosch, A.M., Gizewska, M., van Spronsen, F.J.
Published in Annals of nutrition and metabolism (01.01.2012)
Published in Annals of nutrition and metabolism (01.01.2012)
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The complete European guidelines on phenylketonuria: diagnosis and treatment
van Wegberg, A M J, MacDonald, A, Ahring, K, Bélanger-Quintana, A, Blau, N, Bosch, A M, Burlina, A, Campistol, J, Feillet, F, Giżewska, M, Huijbregts, S C, Kearney, S, Leuzzi, V, Maillot, F, Muntau, A C, van Rijn, M, Trefz, F, Walter, J H, van Spronsen, F J
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Published in Orphanet journal of rare diseases (12.10.2017)
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PKU--What is daily practice in various centres in Europe?
van Spronsen, F. J, Ahring, K. Kiær, Gizewska, M
Published in Journal of inherited metabolic disease (01.02.2009)
Published in Journal of inherited metabolic disease (01.02.2009)
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PKU—What is daily practice in various centres in Europe?: Data from a questionnaire by the scientific advisory committee of the European Society of Phenylketonuria and Allied Disorders
van Spronsen, F. J., Ahring, K. Kiær, Gizewska, M.
Published in Journal of inherited metabolic disease (01.02.2009)
Published in Journal of inherited metabolic disease (01.02.2009)
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Conference Proceeding
PKU dietary handbook to accompany PKU guidelines
MacDonald, A, van Wegberg, A M J, Ahring, K, Beblo, S, Bélanger-Quintana, A, Burlina, A, Campistol, J, Coşkun, T, Feillet, F, Giżewska, M, Huijbregts, S C, Leuzzi, V, Maillot, F, Muntau, A C, Rocha, J C, Romani, C, Trefz, F, van Spronsen, F J
Published in Orphanet journal of rare diseases (30.06.2020)
Published in Orphanet journal of rare diseases (30.06.2020)
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Quality of life in noncompliant adults with phenylketonuria after resumption of the diet
Bik-Multanowski, M., Didycz, B., Mozrzymas, R., Nowacka, M., Kaluzny, L., Cichy, W., Schneiberg, B., Amilkiewicz, J., Bilar, A., Gizewska, M., Lange, A., Starostecka, E., Chrobot, A., Wojcicka-Bartlomiejczyk, B. I., Milanowski, A.
Published in Journal of inherited metabolic disease (01.12.2008)
Published in Journal of inherited metabolic disease (01.12.2008)
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Transferrin hypoglycosylation in hereditary fructose intolerance: Using the clues and avoiding the pitfalls
Adamowicz, M, Płoski, R, Rokicki, D, Morava, E, Giżewska, M, Mierzewska, H, Pollak, A, Lefeber, D. J, Wevers, R. A, Pronicka, E
Published in Journal of inherited metabolic disease (01.06.2007)
Published in Journal of inherited metabolic disease (01.06.2007)
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Nutrition education tools used in phenylketonuria: clinician, parent and patient perspectives from three international surveys
Bernstein, L. E, Helm, J. R, Rocha, J. C, Almeida, M. F, Feillet, F, Link, R. M, Gizewska, M
Published in Journal of human nutrition and dietetics (01.04.2014)
Published in Journal of human nutrition and dietetics (01.04.2014)
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Follow up of phenylketonuria patients
Demirkol, M., Giżewska, M., Giovannini, M., Walter, J.
Published in Molecular genetics and metabolism (2011)
Published in Molecular genetics and metabolism (2011)
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Defining tetrahydrobiopterin responsiveness in phenylketonuria: Survey results from 38 countries
Evers, R.A.F., van Wegberg, A.M.J., Ahring, K., Beblo, S., Bélanger-Quintana, A., Bosch, A.M., Burlina, A., Campistol, J., Coskun, T., Feillet, F., Giżewska, M., Huijbregts, S.C.J., Kearney, S., Langeveld, M., Leuzzi, V., Maillot, F., Muntau, A.C., Rocha, J.C., Romani, C., Trefz, F.K., MacDonald, A., van Spronsen, F.J.
Published in Molecular genetics and metabolism (01.04.2021)
Published in Molecular genetics and metabolism (01.04.2021)
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Pregnancy management and outcome in patients with four different tetrahydrobiopterin disorders
Kuseyri, O., Weissbach, A., Bruggemann, N., Klein, C., Giżewska, M., Karall, D., Scholl-Bürgi, S., Romanowska, H., Krzywińska-Zdeb, E., Monavari, A. A., Knerr, I., Yapıcı, Z., Leuzzi, V., Opladen, T.
Published in Journal of inherited metabolic disease (01.09.2018)
Published in Journal of inherited metabolic disease (01.09.2018)
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Quality of life in noncompliant adults with phenylketonuria after resumption of the diet
Bik-Multanowski, M., Didycz, B., Mozrzymas, R., Nowacka, M., Kaluzny, L., Cichy, W., Schneiberg, B., Amilkiewicz, J., Bilar, A., Gizewska, M., Lange, A., Starostecka, E., Chrobot, A., Wojcicka-Bartlomiejczyk, B. I., Milanowski, A.
Published in Journal of inherited metabolic disease (01.02.2009)
Published in Journal of inherited metabolic disease (01.02.2009)
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The challenges of managing coexistent disorders with phenylketonuria: 30 cases
MacDonald, A., Ahring, K., Almeida, M.F., Belanger-Quintana, A., Blau, N., Burlina, A., Cleary, M., Coskum, T., Dokoupil, K., Evans, S., Feillet, F., Giżewska, M., Gokmen Ozel, H., Lotz-Havla, A.S., Kamieńska, E., Maillot, F., Lammardo, A.M., Muntau, A.C., Puchwein-Schwepcke, A., Robert, M., Rocha, J.C., Santra, S., Skeath, R., Strączek, K., Trefz, F.K., van Dam, E., van Rijn, M., van Spronsen, F., Vijay, S.
Published in Molecular genetics and metabolism (01.12.2015)
Published in Molecular genetics and metabolism (01.12.2015)
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Use of handheld computers for assessment of prefrontal cortex function in patients with phenylketonuria
Bik-Multanowski, M., Mozrzymas, R., Nowacka, M., Borawska-Kowalczyk, U., Lange, A., Starostecka, E., Didycz, B., Kaluzny, L., Gizewska, M., Szynaka, E., Szymczakiewicz-Multanowska, A.
Published in Molecular genetics and metabolism (01.12.2005)
Published in Molecular genetics and metabolism (01.12.2005)
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Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing
Ciara, E., Rokicki, D., Halat, P., Karkucińska-Więckowska, A., Piekutowska-Abramczuk, D., Mayr, J., Trubicka, J., Szymańska-Dębińska, T., Pronicki, M., Pajdowska, M., Dudzińska, M., Giżewska, M., Krajewska-Walasek, M., Książyk, J., Sperl, W., Płoski, R., Pronicka, E.
Published in Molecular genetics and metabolism reports (01.06.2016)
Published in Molecular genetics and metabolism reports (01.06.2016)
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Maternal tetrahydrobiopterin deficiency: The course of two pregnancies and follow-up of two children in a mother with 6-pyruvoyl-tetrahydropterin synthase deficiency
Giżewska, M., Hnatyszyn, G., Sagan, L., Cyryłowski, L., Żekanowski, C., Modrzejewska, M., Nestorowicz, B., Kubalska, J., Walczak, M.
Published in Journal of inherited metabolic disease (01.12.2009)
Published in Journal of inherited metabolic disease (01.12.2009)
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Normalizing Diet in Individuals with Phenylketonuria Treated with Pegvaliase: A Case Series and Patient Perspective
Bernstein, Laurie, Hansen, Joyanna, Kogelmann, Christian, Ellerbrok, Margret, Gizewska, Maria, Gaughan, Sommer, Rocha, Julio Cesar, Belanger, Amaya, Rohr, Fran
Published in Nutrition and dietary supplements (31.12.2021)
Published in Nutrition and dietary supplements (31.12.2021)
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Nutrition education tools used in p henylketonuria: clinician, parent and patient perspectives from three international surveys
Bernstein, L. E., Helm, J. R., Rocha, J. C., Almeida, M. F., Feillet, F., Link, R. M., Gizewska, M.
Published in Journal of human nutrition and dietetics (01.04.2014)
Published in Journal of human nutrition and dietetics (01.04.2014)
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Novel mutations in epithelial sodium channel (ENaC) subunit genes and phenotypic expression of multisystem pseudohypoaldosteronism
Edelheit, Oded, Hanukoglu, Israel, Gizewska, Maria, Kandemir, Nurgun, Tenenbaum-Rakover, Yardena, Yurdakök, Murat, Zajaczek, Stanislaw, Hanukoglu, Aaron
Published in Clinical endocrinology (Oxford) (01.05.2005)
Published in Clinical endocrinology (Oxford) (01.05.2005)
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Molecular investigations to improve diagnostic accuracy in patients with ARC syndrome
Cullinane, Andrew R, Straatman-Iwanowska, Anna, Seo, Jeong K, Ko, Jae S, Song, Kyung S, Gizewska, Maria, Gruszfeld, Dariusz, Gliwicz, Dorota, Tuysuz, Beyhan, Erdemir, Gulin, Sougrat, Rachid, Wakabayashi, Yoshiyuki, Hinds, Rupert, Barnicoat, Angela, Mandel, Hanna, Chitayat, David, Fischler, Björn, Garcia-Cazorla, Angels, Knisely, A.S, Kelly, Deirdre A, Maher, Eamonn R, Gissen, Paul
Published in Human mutation (01.02.2009)
Published in Human mutation (01.02.2009)
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