Research ExplorerScientific StaffAnia Carolina Muntau Publications

Prof.Dr.med. ID: 1446347

Ania Carolina Muntau

Head of Clinic

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Affiliations
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Publications

  1. 2024

  2. Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

    Schmidt, A., Danyel, M., Grundmann, K., Brunet, T., Klinkhammer, H., Hsieh, T-C., Engels, H., Peters, S., Knaus, A., Moosa, S., Averdunk, L., Boschann, F., Sczakiel, H. L., Schwartzmann, S., Mensah, M. A., Pantel, J. T., Holtgrewe, M., Bösch, A., Weiß, C., Weinhold, N., Suter, A-A., Stoltenburg, C., Neugebauer, J., Kallinich, T., Kaindl, A. M., Holzhauer, S., Bührer, C., Bufler, P., Kornak, U., Ott, C-E., Schülke, M., Nguyen, H. H. P., Hoffjan, S., Grasemann, C., Rothoeft, T., Brinkmann, F., Matar, N., Sivalingam, S., Perne, C., Mangold, E., Kreiss, M., Cremer, K., Betz, R. C., Mücke, M., Grigull, L., Klockgether, T., Spier, I., Heimbach, A., Bender, T., Brand, F., Stieber, C., Morawiec, A. M., Karakostas, P., Schäfer, V. S., Bernsen, S., Weydt, P., Castro-Gomez, S., Aziz, A., Grobe-Einsler, M., Kimmich, O., Kobeleva, X., Önder, D., Lesmann, H., Kumar, S., Tacik, P., Basin, M. A., Incardona, P., Lee-Kirsch, M. A., Berner, R., Schuetz, C., Körholz, J., Kretschmer, T., Di Donato, N., Schröck, E., Heinen, A., Reuner, U., Hanßke, A-M., Kaiser, F. J., Manka, E., Munteanu, M., Kuechler, A., Cordula, K., Hirtz, R., Schlapakow, E., Schlein, C., Lisfeld, J., Kubisch, C., Herget, T., Hempel, M., Weiler-Normann, C., Ullrich, K., Schramm, C., Rudolph, C., Rillig, F., Groffmann, M., Muntau, A., Tibelius, A., Schwaibold, E. M. C., Schaaf, C. P., Zawada, M., Kaufmann, L., Hinderhofer, K., Okun, P. M., Kotzaeridou, U., Hoffmann, G. F., Choukair, D., Bettendorf, M., Spielmann, M., Ripke, A., Pauly, M., Münchau, A., Lohmann, K., Hüning, I., Hanker, B., Bäumer, T., Herzog, R., Hellenbroich, Y., Westphal, D. S., Strom, T., Kovacs, R., Riedhammer, K. M., Mayerhanser, K., Graf, E., Brugger, M., Hoefele, J., Oexle, K., Mirza-Schreiber, N., Berutti, R., Schatz, U., Krenn, M., Makowski, C., Weigand, H., Schröder, S., Rohlfs, M., Vill, K., Hauck, F., Borggraefe, I., Müller-Felber, W., Kurth, I., Elbracht, M., Knopp, C., Begemann, M., Kraft, F., Lemke, J. R., Hentschel, J., Platzer, K., Strehlow, V., Abou Jamra, R., Kehrer, M., Demidov, G., Beck-Wödl, S., Graessner, H., Sturm, M., Zeltner, L., Schöls, L. J., Magg, J., Bevot, A., Kehrer, C., Kaiser, N., Turro, E., Horn, D., Grüters-Kieslich, A., Klein, C., Mundlos, S., Nöthen, M., Riess, O., Meitinger, T., Krude, H., Krawitz, P. M., Haack, T., Ehmke, N. & Wagner, M., 08.2024, In: NAT GENET. 56, 8, p. 1644-1653 10 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  3. Fetal lung growth predicts the risk for early-life respiratory infections and childhood asthma

    Zazara, D. E., Giannou, O., Schepanski, S., Pagenkemper, M., Giannou, A. D., Pincus, M., Belios, I., Bonn, S., Muntau, A. C., Hecher, K., Diemert, A. & Arck, P. C., 05.2024, In: WORLD J PEDIATR. 20, 5, p. 481-495 15 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  4. Functional studies drive treatment of phenylketonuria to become personalized

    Gundorova, P., Danecka, M. K., Woidy, M., Kasten, V., Muntau, A. C. & Gersting, S. W., 04.01.2024, In: EUR J HUM GENET. 32, Suppl 1, p. 698 P19.044.D.

    Research output: SCORING: Contribution to journal › Conference abstract in journal › Research › peer-review

  5. Long-term comparative effectiveness of pegvaliase versus medical nutrition therapy with and without sapropterin in adults with phenylketonuria

    Burton, B. K., Clague, G. E., Harding, C. O., Kucuksayrac, E., Levy, D. G., Lindstrom, K., Longo, N., Maillot, F., Muntau, A. C., Rutsch, F. & Zori, R. T., 01.2024, In: MOL GENET METAB. 141, 1, p. 108114

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  6. Management of phenylketonuria in European PKU centres remains heterogeneous

    Kirsten, A., Amaya, B-Q., Alberto, B., Maria, G., Francois, M., Ania, M., Anne, R. & Anita, M., 01.2024, In: MOL GENET METAB. 141, 1, p. 108120

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  7. 2023

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

    Jank, M., Oechsle, A-L., Armann, J., Behrends, U., Berner, R., Chao, C-M., Diffloth, N., Doenhardt, M., Hansen, G., Hufnagel, M., Lander, F., Liese, J. G., Muntau, A. C., Niehues, T., von Both, U., Verjans, E., Weil, K., von Kries, R. & Schroten, H., 10.2023, In: INFECTION. 51, 5, p. 1357-1367 11 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

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

    Rocha, J. C., Ahring, K. K., Bausell, H., Bilder, D. A., Harding, C. O., Inwood, A., Longo, N., Muntau, A. C., Pessoa, A. L. S., Rohr, F., Sivri, S. & Hermida, Á., 11.09.2023, In: NUTRIENTS. 15, 18, 3940.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  10. Glutaryl-CoA Dehydrogenase Misfolding in Glutaric Acidemia Type 1

    Barroso, M., Gertzen, M., Puchwein-Schwepcke, A. F., Preisler, H., Sturm, A., Reiss, D. D., Danecka, M. K., Muntau, A. C. & Gersting, S. W., 24.08.2023, In: INT J MOL SCI. 24, 17, 13158.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

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

    Merkel, M., Berg, D., Brüggemann, N., Classen, J., Mainka, T., Zittel, S. & Muntau, A. C., 08.2023, In: J NEUROL. 270, 8, p. 3675-3687 13 p.

    Research output: SCORING: Contribution to journal › SCORING: Review article › Research

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

    Lalia, J. K., Schild, R-S., Lütgehetmann, M., Dunay, G. A., Kallinich, T., Kobbe, R., Massoud, M., Oh, J., Pietzsch, L., Schulze-Sturm, U., Schuetz, C., Sibbertsen, F., Speth, F., Thieme, S., Witkowski, M., Berner, R., Muntau, A. C., Gersting, S. W., Toepfner, N., Pagel, J. & Paul, K., 14.07.2023, In: VIRUSES-BASEL. 15, 7, p. 1553

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  13. Accumulation of α-synuclein mediates podocyte injury in Fabry nephropathy

    Braun, F., Abed, A., Sellung, D., Rogg, M., Woidy, M., Eikrem, O., Wanner, N., Gambardella, J., Laufer, S. D., Haas, F., Wong, M. N., Dumoulin, B., Rischke, P., Mühlig, A. K., Sachs, W., von Cossel, K., Schulz, K., Muschol, N., Gersting, S. W., Muntau, A. C., Kretz, O., Hahn, O., Rinschen, M. M., Mauer, M., Bork, T., Grahammer, F., Liang, W., Eierhoff, T., Römer, W., Hansen, A., Meyer-Schwesinger, C., Iaccarino, G., Tøndel, C., Marti, H-P., Najafian, B., Puelles, V. G., Schell, C. & Huber, T. B., 01.06.2023, In: J CLIN INVEST. 133, 11, e157782.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  14. Two years of pegvaliase in Germany: Experiences and best practice recommendations

    Krämer, J., Baerwald, C., Heimbold, C., Kamrath, C., Parhofer, K. G., Reichert, A., Rutsch, F., Stolz, S., Weinhold, N. & Muntau, A. C., 05.2023, In: MOL GENET METAB. 139, 1, p. 107564

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

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

    Grasemann, C., Höppner, J., Burgard, P., Schündeln, M. M., Matar, N., Müller, G., Krude, H., Berner, R., Lee-Kirsch, M. A., Hauck, F., Wainwright, K., Baumgarten, S., Atinga, J., Bauer, J. J., Manka, E., Körholz, J., Kiewert, C., Heinen, A., Kretschmer, T., Kurth, T., Mittnacht, J., Schramm, C., Klein, C., Graessner, H., Hiort, O., Muntau, A. C., Grüters, A., Hoffmann, G. F. & Choukair, D., 25.04.2023, In: ORPHANET J RARE DIS. 18, 1, p. 93

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  16. Long-Term Antibody Response to SARS-CoV-2 in Children

    Dunay, G. A., Barroso, M., Woidy, M., Danecka, M. K., Engels, G., Hermann, K., Neumann, F. S., Paul, K., Beime, J., Escherich, G., Fehse, K., Grinstein, L., Haniel, F., Haupt, L. J., Hecher, L., Kehl, T., Kemen, C., Kemper, M. J., Kobbe, R., Kohl, A., Klokow, T., Nörz, D., Olfe, J., Schlenker, F., Schmiesing, J., Schrum, J., Sibbertsen, F., Stock, P., Tiede, S., Vettorazzi, E., Zazara, D. E., Zapf, A., Lütgehetmann, M., Oh, J., Mir, T. S., Muntau, A. C., Gersting, S. W. & C19.CHILD Study Group, 01.2023, In: J CLIN IMMUNOL. 43, 1, p. 46-56 11 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  17. 2022

  18. Management of early treated adolescents and young adults with phenylketonuria: Development of international consensus recommendations using a modified Delphi approach

    Burton, B. K., Hermida, Á., Bélanger-Quintana, A., Bell, H., Bjoraker, K. J., Christ, S. E., Grant, M. L., Harding, C. O., Huijbregts, S. C. J., Longo, N., McNutt, M. C., Nguyen-Driver, M. D., Santos Pessoa, A. L., Rocha, J. C., Sacharow, S., Sanchez-Valle, A., Sivri, H. S., Vockley, J., Walterfang, M., Whittle, S. & Muntau, A. C., 27.08.2022, In: MOL GENET METAB. 137, 1-2, p. 114-126 13 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

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

    Paul, K., Sibbertsen, F., Weiskopf, D., Lütgehetmann, M., Barroso, M., Danecka, M. K., Glau, L., Hecher, L., Hermann, K., Kohl, A., Oh, J., Wiesch, J. S. Z., Sette, A., Tolosa, E., Vettorazzi, E., Woidy, M., Zapf, A., Zazara, D. E., Mir, T. S., Muntau, A. C., Gersting, S. W. & Dunay, G. A., 15.07.2022, In: FRONT IMMUNOL. 13, p. 867577 867577.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  20. Cross-sectional seroprevalence surveys of SARS-CoV-2 antibodies in children in Germany, June 2020 to May 2021

    Sorg, A-L., Bergfeld, L., Jank, M., Corman, V., Semmler, I., Goertz, A., Beyerlein, A., Verjans, E., Wagner, N., Von Bernuth, H., Lander, F., Weil, K., Hufnagel, M., Spiekerkoetter, U., Chao, C-M., Naehrlich, L., Muntau, A. C., Schulze-Sturm, U., Hansen, G., Wetzke, M., Jung, A-M., Niehues, T., Fricke-Otto, S., Von Both, U., Huebner, J., Behrends, U., Liese, J. G., Schwerk, C., Drosten, C., Von Kries, R. & Schroten, H., 06.06.2022, In: NAT COMMUN. 13, 1, 3128.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  21. 2021

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

    Scheinin, M., Junnila, J., Reiner, G., MacDonald, A. & Muntau, A. C., 14.09.2021, In: NUTRIENTS. 13, 9, 3189.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

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

    Paul, K., Merabishvili, M., Hazan, R., Christner, M., Herden, U., Gelman, D., Khalifa, L., Yerushalmy, O., Coppenhagen-Glazer, S., Harbauer, T., Schulz-Jürgensen, S., Rohde, H., Fischer, L., Aslam, S., Rohde, C., Nir-Paz, R., Pirnay, J-P., Singer, D. & Muntau, A. C., 07.09.2021, In: VIRUSES-BASEL. 13, 9, p. 1785

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  24. iBRET Screen of the ABCD1 Peroxisomal Network and Mutation-Induced Network Perturbations

    Lotz-Havla, A. S., Woidy, M., Guder, P., Friedel, C. C., Klingbeil, J. M., Bulau, A-M., Schultze, A., Dahmen, I., Noll-Puchta, H., Kemp, S., Erdmann, R., Zimmer, R., Muntau, A. C. & Gersting, S. W., 03.09.2021, In: J PROTEOME RES. 20, 9, p. 4366-4380 15 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  25. A noncoding RNA modulator potentiates phenylalanine metabolism in mice

    Li, Y., Tan, Z., Zhang, Y., Zhang, Z., Hu, Q., Liang, K., Jun, Y., Ye, Y., Li, Y-C., Li, C., Liao, L., Xu, J., Xing, Z., Pan, Y., Chatterjee, S. S., Nguyen, T. K., Hsiao, H., Egranov, S. D., Putluri, N., Coarfa, C., Hawke, D. H., Gunaratne, P. H., Tsai, K-L., Han, L., Hung, M-C., Calin, G. A., Namour, F., Guéant, J-L., Muntau, A. C., Blau, N., Sutton, V. R., Schiff, M., Feillet, F., Zhang, S., Lin, C. & Yang, L., 06.08.2021, In: SCIENCE. 373, 6555, p. 662-673 12 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  26. 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, multicentre, randomised phase IIIb trial

    Muntau, A. C., Burlina, A., Eyskens, F., Freisinger, P., Leuzzi, V., Sivri, H. S., Gramer, G., Pazdírková, R., Cleary, M., Lotz-Havla, A. S., Lane, P., Alvarez, I. & Rutsch, F., 03.08.2021, In: ORPHANET J RARE DIS. 16, 1, p. 341

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

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

    Trefz, F., Muntau, A. C., Schneider, K. M., Altevers, J., Jacob, C., Braun, S., Greiner, W., Jha, A., Jain, M., Alvarez, I., Lane, P., Zeiss, C. & Rutsch, F., 06.2021, In: MOL GENET METAB REP. 27, p. 100764

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  28. 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., 04.2021, In: MOL GENET METAB. 132, 4, p. 215-219 5 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  29. Edgetic Perturbations Contribute to Phenotypic Variability in PEX26 Deficiency

    Lotz-Havla, A. S., Woidy, M., Guder, P., Schmiesing, J., Erdmann, R., Waterham, H. R., Muntau, A. C. & Gersting, S. W., 2021, In: FRONT GENET. 12, 726174.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  30. 2020

  31. Correction to: 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., 01.09.2020, In: ORPHANET J RARE DIS. 15, 1, p. 230

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  32. The Genetic Landscape and Epidemiology of Phenylketonuria

    Hillert, A., Anikster, Y., Belanger-Quintana, A., Burlina, A., Burton, B. K., Carducci, C., Chiesa, A. E., Christodoulou, J., Đorđević, M., Desviat, L. R., Eliyahu, A., Evers, R. A. F., Fajkusova, L., Feillet, F., Bonfim-Freitas, P. E., Giżewska, M., Gundorova, P., Karall, D., Kneller, K., Kutsev, S. I., Leuzzi, V., Levy, H. L., Lichter-Konecki, U., Muntau, A. C., Namour, F., Oltarzewski, M., Paras, A., Perez, B., Polak, E., Polyakov, A. V., Porta, F., Rohrbach, M., Scholl-Bürgi, S., Spécola, N., Stojiljković, M., Shen, N., Santana-da Silva, L. C., Skouma, A., van Spronsen, F., Stoppioni, V., Thöny, B., Trefz, F. K., Vockley, J., Yu, Y., Zschocke, J., Hoffmann, G. F., Garbade, S. F. & Blau, N., 06.08.2020, In: AM J HUM GENET. 107, 2, p. 234-250 17 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  33. 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., 30.06.2020, In: ORPHANET J RARE DIS. 15, 1, p. 171

    Research output: SCORING: Contribution to journal › SCORING: Review article › Research

  34. A prenatally disrupted airway epithelium orchestrates the fetal origin of asthma in mice

    Zazara-Giannou, D., Wegmann, M., Giannou, A. D., Hierweger, A. M., Alawi, M., Thiele, K., Huber, S., Pincus, M., Muntau, A. C., Solano, M. E. & Arck, P. C., 06.2020, In: J ALLERGY CLIN IMMUN. 145, 6, p. 1641-1654 14 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  35. 2019

  36. Clinical burden of illness in patients with phenylketonuria (PKU) and associated comorbidities - a retrospective study of German health insurance claims data

    Trefz, K. F., Muntau, A. C., Kohlscheen, K. M., Altevers, J., Jacob, C., Braun, S., Greiner, W., Jha, A., Jain, M., Alvarez, I., Lane, P., Schröder, C. & Rutsch, F., 22.07.2019, In: ORPHANET J RARE DIS. 14, 1, p. 181

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  37. International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria

    Muntau, A. C., Adams, D. J., Bélanger-Quintana, A., Bushueva, T. V., Cerone, R., Chien, Y-H., Chiesa, A., Coşkun, T., de Las Heras, J., Feillet, F., Katz, R., Lagler, F., Piazzon, F., Rohr, F., van Spronsen, F. J., Vargas, P., Wilcox, G. & Bhattacharya, K., 05.2019, In: MOL GENET METAB. 127, 1, p. 1-11 11 p.

    Research output: SCORING: Contribution to journal › SCORING: Review article › Research

  38. Exome Sequencing in Children: Undiagnosed Developmental Delay and Neurological Illness

    Mahler, E. A., Johannsen, J., Tsiakas, K., Kloth, K., Lüttgen, S., Mühlhausen, C., Alhaddad, B., Haack, T. B., Strom, T. M., Kortüm, F., Meitinger, T., Muntau, A. C., Santer, R., Kubisch, C., Lessel, D., Denecke, J. & Hempel, M., 22.03.2019, In: DTSCH ARZTEBL INT. 116, 12, p. 197-204 8 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  39. Isoform-specific domain organization determines conformation and function of the peroxisomal biogenesis factor PEX26

    Guder, P., Lotz-Havla, A. S., Woidy, M., Reiß, D. D., Danecka, M. K., Schatz, U. A., Becker, M., Ensenauer, R., Pagel, P., Büttner, L., Muntau, A. C. & Gersting, S. W., 03.2019, In: BBA-MOL CELL RES. 1866, 3, p. 518-531 14 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  40. 2018

  41. Diagnostic and therapeutic recommendations for the treatment of hyperphenylalaninemia in patients 0-4 years of age

    Muntau, A. C., du Moulin, M. & Feillet, F., 29.09.2018, In: ORPHANET J RARE DIS. 13, 1, p. 173

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  42. Pädiatrie hoch2

    Muntau, A. C., 08.2018, 1 ed. München: Urban & Fischer. 680 p.

    Research output: Book/anthology › Collected edition/anthology › Education

  43. Secondary BH4 deficiency links protein homeostasis to regulation of phenylalanine metabolism

    Eichinger, A., Danecka, M. K., Möglich, T., Borsch, J., Woidy, M., Büttner, L., Muntau, A. C. & Gersting, S. W., 15.05.2018, In: HUM MOL GENET. 27, 10, p. 1732-1742 11 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

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

    Woidy, M., Muntau, A. C. & Gersting, S. W., 05.2018, In: J INHERIT METAB DIS. 41, 3, p. 285-296 12 p.

    Research output: SCORING: Contribution to journal › SCORING: Review article › Research

  45. 2017

  46. 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., 12.10.2017, In: ORPHANET J RARE DIS. 12, 1, p. 162

    Research output: SCORING: Contribution to journal › SCORING: Review article › Research

  47. Issues with European guidelines for phenylketonuria - Authors' reply

    van Spronsen, F. J., van Wegberg, A. M. J., 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., Trefz, F. K., van Rijn, M. & MacDonald, A., 09.2017, In: LANCET DIABETES ENDO. 5, 9, p. 683-684 2 p.

    Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research

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

    Muntau, A. C., Burlina, A., Eyskens, F., Freisinger, P., De Laet, C., Leuzzi, V., Rutsch, F., Sivri, H. S., Vijay, S., Bal, M. O., Gramer, G., Pazdírková, R., Cleary, M., Lotz-Havla, A. S., Munafo, A., Mould, D. R., Moreau-Stucker, F. & Rogoff, D., 09.03.2017, In: ORPHANET J RARE DIS. 12, 1, p. 47

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  49. Disease-causing mutations affecting surface residues of mitochondrial glutaryl-CoA dehydrogenase impair stability, heteromeric complex formation, and mitochondria architecture

    Schmiesing, J., Lohmöller, B., Schweizer, M., Tidow, H., Gersting, S. W., Muntau, A. C., Braulke, T. & Mühlhausen, C., 01.02.2017, In: HUM MOL GENET. 26, 3, p. 538-551

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  50. Key European guidelines for the diagnosis and management of patients with phenylketonuria

    van Spronsen, F. J., van Wegberg, A. M., 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., Trefz, F. K., van Rijn, M., Walter, J. H. & MacDonald, A., 09.01.2017, In: LANCET DIABETES ENDO.

    Research output: SCORING: Contribution to journal › SCORING: Review article › Research

  51. 2016

  52. Homooligomerization of ABCA3 and its functional significance

    Frixel, S., Lotz-Havla, A. S., Kern, S., Kaltenborn, E., Wittmann, T., Gersting, S. W., Muntau, A. C., Zarbock, R. & Griese, M., 08.2016, In: INT J MOL MED. 38, 2, p. 558-66 9 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

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

    Giżewska, M., MacDonald, A., Bélanger-Quintana, A., Burlina, A., Cleary, M., Coşkun, T., Feillet, F., Muntau, A. C., Trefz, F. K., van Spronsen, F. J. & Blau, N., 02.2016, In: EUR J PEDIATR. 175, 2, p. 261-72 12 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  54. 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

    Santer, R., du Moulin, M., Shahinyan, T., Vater, I., Maier, E., Muntau, A. C. & Steinmann, B., 2016, In: ORPHANET J RARE DIS. 11, p. 44

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  55. 2015

  56. 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., 12.2015, In: MOL GENET METAB. 116, 4, p. 242-51 10 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  57. Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes

    Chien, Y-H., Abdenur, J. E., Baronio, F., Bannick, A. A., Corrales, F., Couce, M., Donner, M. G., Ficicioglu, C., Freehauf, C., Frithiof, D., Gotway, G., Hirabayashi, K., Hofstede, F., Hoganson, G., Hwu, W-L., James, P., Kim, S., Korman, S. H., Lachmann, R., Levy, H., Lindner, M., Lykopoulou, L., Mayatepek, E., Muntau, A., Okano, Y., Raymond, K., Rubio-Gozalbo, E., Scholl-Bürgi, S., Schulze, A., Singh, R., Stabler, S., Stuy, M., Thomas, J., Wagner, C., Wilson, W. G., Wortmann, S., Yamamoto, S., Pao, M. & Blom, H. J., 20.08.2015, In: ORPHANET J RARE DIS. 10, p. Art. 99

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  58. Kurzlehrbuch Pädiatrie

    Muntau, A., 08.2015, Kurzlehrbuch Pädiatrie. 1 ed. München: Urban & Fischer, p. 1-479 480 p.

    Research output: SCORING: Contribution to book/anthology › SCORING: Contribution to collected editions/anthologies › Education › peer-review

  59. Quantification of mevalonate-5-phosphate using UPLC-MS/MS for determination of mevalonate kinase activity

    Reitzle, L., Maier, B., Stojanov, S., Teupser, D., Muntau, A. C., Vogeser, M. & Gersting, S. W., 08.2015, In: CLIN BIOCHEM. 48, 12, p. 781-7 7 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  60. Tetrahydrobiopterin (BH4) responsiveness in neonates with hyperphenylalaninemia: A semi-mechanistically-based, nonlinear mixed-effect modeling

    Trefz, F., Lichtenberger, O., Blau, N., Muntau, A. C., Feillet, F., Bélanger-Quintana, A., van Spronsen, F. & Munafo, A., 04.2015, In: MOL GENET METAB. 114, 4, p. 564-9 6 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

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