Inborn errors of metabolism and the human interactome: a systems medicine approach

por Woidy, Mathias, Muntau, Ania C., Gersting, Søren W.
Publicado 2018

Diagnostic and therapeutic recommendations for the treatment of hyperphenylalaninemia in patients 0–4 years of age

por Muntau, Ania C., du Moulin, Marcel, Feillet, Francois
Publicado 2018

Nitrogen Balance after the Administration of a Prolonged-Release Protein Substitute for Phenylketonuria as a Single Dose in Healthy Volunteers

por Scheinin, Mika, Junnila, Jouni, Reiner, Giorgio, MacDonald, Anita, Muntau, Ania C.
Publicado 2021

What are effects of a spaced activation of virtual patients in a pediatric course?

por Maier, Esther M, Hege, Inga, Muntau, Ania C, Huber, Johanna, Fischer, Martin R
Publicado 2013

Characterisation and differential diagnosis of neurological complications in adults with phenylketonuria: literature review and expert opinion

por Merkel, Martin, Berg, Daniela, Brüggemann, Norbert, Classen, Joseph, Mainka, Tina, Zittel, Simone, Muntau, Ania C.
Publicado 2023

A summary of molecular genetic findings in fructose-1,6-bisphosphatase deficiency with a focus on a common long-range deletion and the role of MLPA analysis

por Santer, René, du Moulin, Marcel, Shahinyan, Tatevik, Vater, Inga, Maier, Esther, Muntau, Ania C., Steinmann, Beat
Publicado 2016

Edgetic Perturbations Contribute to Phenotypic Variability in PEX26 Deficiency

por Lotz-Havla, Amelie S., Woidy, Mathias, Guder, Philipp, Schmiesing, Jessica, Erdmann, Ralf, Waterham, Hans R., Muntau, Ania C., Gersting, Søren W.
Publicado 2021

Glutaryl-CoA Dehydrogenase Misfolding in Glutaric Acidemia Type 1

por Barroso, Madalena, Gertzen, Marcus, Puchwein-Schwepcke, Alexandra F., Preisler, Heike, Sturm, Andreas, Reiss, Dunja D., Danecka, Marta K., Muntau, Ania C., Gersting, Søren W.
Publicado 2023

Protein misfolding is the molecular mechanism underlying MCADD identified in newborn screening

por Maier, Esther M., Gersting, Søren W., Kemter, Kristina F., Jank, Johanna M., Reindl, Maria, Messing, Dunja D., Truger, Marietta S., Sommerhoff, Christian P., Muntau, Ania C.
Publicado 2009

Diagnostic and management practices for phenylketonuria in 19 countries of the South and Eastern European Region: survey results

por Giżewska, Maria, MacDonald, Anita, Bélanger-Quintana, Amaya, Burlina, Alberto, Cleary, Maureen, Coşkun, Turgay, Feillet, François, Muntau, Ania C., Trefz, Friedrich K., van Spronsen, Francjan J., Blau, Nenad
Publicado 2015

Health economic burden of patients with phenylketonuria (PKU) – A retrospective study of German health insurance claims data

por Trefz, Friedrich, Muntau, Ania C., Schneider, Kim M., Altevers, Julia, Jacob, Christian, Braun, Sebastian, Greiner, Wolfgang, Jha, Ashok, Jain, Mohit, Alvarez, Ignacio, Lane, Paul, Zeiss, Claudia, Rutsch, Frank
Publicado 2021

Long-term efficacy and safety of sapropterin in patients who initiated sapropterin at < 4 years of age with phenylketonuria: results of the 3-year extension of the SPARK open-label...

por Muntau, Ania C., Burlina, Alberto, Eyskens, François, Freisinger, Peter, Leuzzi, Vincenzo, Sivri, Hatice Serap, Gramer, Gwendolyn, Pazdírková, Renata, Cleary, Maureen, Lotz-Havla, Amelia S., Lane, Paul, Alvarez, Ignacio, Rutsch, Frank
Publicado 2021

The Domain-Specific and Temperature-Dependent Protein Misfolding Phenotype of Variant Medium-Chain acyl-CoA Dehydrogenase

por Jank, Johanna M., Maier, Esther M., Reiß, Dunja D., Haslbeck, Martin, Kemter, Kristina F., Truger, Marietta S., Sommerhoff, Christian P., Ferdinandusse, Sacha, Wanders, Ronald J., Gersting, Søren W., Muntau, Ania C.
Publicado 2014

Expert Consensus on the Long-Term Effectiveness of Medical Nutrition Therapy and Its Impact on the Outcomes of Adults with Phenylketonuria

por Rocha, Júlio César, Ahring, Kirsten K., Bausell, Heather, Bilder, Deborah A., Harding, Cary O., Inwood, Anita, Longo, Nicola, Muntau, Ania C., Pessoa, André L. Santos, Rohr, Fran, Sivri, Serap, Hermida, Álvaro
Publicado 2023

Efficacy, safety and population pharmacokinetics of sapropterin in PKU patients <4 years: results from the SPARK open-label, multicentre, randomized phase IIIb trial

por Muntau, Ania C., Burlina, Alberto, Eyskens, François, Freisinger, Peter, De Laet, Corinne, Leuzzi, Vincenzo, Rutsch, Frank, Sivri, H. Serap, Vijay, Suresh, Bal, Milva Orquidea, Gramer, Gwendolyn, Pazdírková, Renata, Cleary, Maureen, Lotz-Havla, Amelie S., Munafo, Alain, Mould, Diane R., Moreau-Stucker, Flavie, Rogoff, Daniela
Publicado 2017

Bacteriophage Rescue Therapy of a Vancomycin-Resistant Enterococcus faecium Infection in a One-Year-Old Child following a Third Liver Transplantation

por Paul, Kevin, Merabishvili, Maya, Hazan, Ronen, Christner, Martin, Herden, Uta, Gelman, Daniel, Khalifa, Leron, Yerushalmy, Ortal, Coppenhagen-Glazer, Shunit, Harbauer, Theresa, Schulz-Jürgensen, Sebastian, Rohde, Holger, Fischer, Lutz, Aslam, Saima, Rohde, Christine, Nir-Paz, Ran, Pirnay, Jean-Paul, Singer, Dominique, Muntau, Ania Carolina
Publicado 2021

Comparing SARS-CoV-2 variants among children and adolescents in Germany: relative risk of COVID-19-related hospitalization, ICU admission and mortality

por Jank, Marietta, Oechsle, Anna-Lisa, Armann, Jakob, Behrends, Uta, Berner, Reinhard, Chao, Cho-Ming, Diffloth, Natalie, Doenhardt, Maren, Hansen, Gesine, Hufnagel, Markus, Lander, Fabian, Liese, Johannes G., Muntau, Ania C., Niehues, Tim, von Both, Ulrich, Verjans, Eva, Weil, Katharina, von Kries, Rüdiger, Schroten, Horst
Publicado 2023

Reduced Humoral and Cellular Immune Response to Primary COVID-19 mRNA Vaccination in Kidney Transplanted Children Aged 5–11 Years

por Lalia, Jasmin K., Schild, Raphael, Lütgehetmann, Marc, Dunay, Gabor A., Kallinich, Tilmann, Kobbe, Robin, Massoud, Mona, Oh, Jun, Pietzsch, Leonora, Schulze-Sturm, Ulf, Schuetz, Catharina, Sibbertsen, Freya, Speth, Fabian, Thieme, Sebastian, Witkowski, Mario, Berner, Reinhard, Muntau, Ania C., Gersting, Søren W., Toepfner, Nicole, Pagel, Julia, Paul, Kevin
Publicado 2023

Specific CD4+ T Cell Responses to Ancestral SARS-CoV-2 in Children Increase With Age and Show Cross-Reactivity to Beta Variant

por Paul, Kevin, Sibbertsen, Freya, Weiskopf, Daniela, Lütgehetmann, Marc, Barroso, Madalena, Danecka, Marta K., Glau, Laura, Hecher, Laura, Hermann, Katharina, Kohl, Aloisa, Oh, Jun, Schulze zur Wiesch, Julian, Sette, Alessandro, Tolosa, Eva, Vettorazzi, Eik, Woidy, Mathias, Zapf, Antonia, Zazara, Dimitra E., Mir, Thomas S., Muntau, Ania C., Gersting, Søren W., Dunay, Gabor A.
Publicado 2022

Transition for adolescents with a rare disease: results of a nationwide German project

por Grasemann, Corinna, Höppner, Jakob, Burgard, Peter, Schündeln, Michael M., Matar, Nora, Müller, Gabriele, Krude, Heiko, Berner, Reinhard, Lee-Kirsch, Min Ae, Hauck, Fabian, Wainwright, Kerstin, Baumgarten, Sylvana, Atinga, Janet, Bauer, Jens J., Manka, Eva, Körholz, Julia, Kiewert, Cordula, Heinen, André, Kretschmer, Tanita, Kurth, Tobias, Mittnacht, Janna, Schramm, Christoph, Klein, Christoph, Graessner, Holm, Hiort, Olaf, Muntau, Ania C., Grüters, Annette, Hoffmann, Georg F., Choukair, Daniela
Publicado 2023