Prof.Dr.med. ID: 1446347

Ania Carolina Muntau

Head of Clinic

graph of relations

Publications

  1. 2022
  2. 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 journalSCORING: Journal articles Researchpeer-review

  3. 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 journalSCORING: Journal articles Researchpeer-review

  4. 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 journalSCORING: Journal articles Researchpeer-review

  5. 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., 11.02.2022, medRxiv preprint - CSH (Cold Spring Harbor Laboratory) -BMJ Yale.

    Research output: Other contributionOtherResearch

  6. 2021
  7. 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 journalSCORING: Journal articles Researchpeer-review

  8. 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 journalSCORING: Journal articles Researchpeer-review

  9. 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 journalSCORING: Journal articles Researchpeer-review

  10. 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 journalSCORING: Journal articles Researchpeer-review

  11. 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 journalSCORING: Journal articles Researchpeer-review

  12. 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 journalSCORING: Journal articles Researchpeer-review

  13. 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 journalSCORING: Journal articles Researchpeer-review

  14. 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 journalSCORING: Journal articles Researchpeer-review

  15. 2020
  16. 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 journalSCORING: Journal articles Researchpeer-review

  17. 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 journalSCORING: Journal articles Researchpeer-review

  18. 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 journalSCORING: Review articlesResearch

  19. 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 journalSCORING: Journal articles Researchpeer-review

  20. 2019
  21. 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 journalSCORING: Journal articles Researchpeer-review

  22. 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 journalSCORING: Review articlesResearch

  23. 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 journalSCORING: Journal articles Researchpeer-review

  24. 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 journalSCORING: Journal articles Researchpeer-review

  25. 2018
  26. 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 journalSCORING: Journal articles Researchpeer-review

  27. Pädiatrie hoch2

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

    Research output: Book/anthologyCollected editions and anthologiesEducation

  28. 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 journalSCORING: Journal articles Researchpeer-review

  29. 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 journalSCORING: Review articlesResearch

  30. 2017
  31. 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 journalSCORING: Review articlesResearch

  32. 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 journalOther (editorial matter etc.)Research

  33. 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 journalSCORING: Journal articles Researchpeer-review

  34. 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 journalSCORING: Journal articles Researchpeer-review

  35. 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 journalSCORING: Review articlesResearch

  36. 2016
  37. 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 journalSCORING: Journal articles Researchpeer-review

  38. 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 journalSCORING: Journal articles Researchpeer-review

  39. 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 journalSCORING: Journal articles Researchpeer-review

  40. 2015
  41. 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 journalSCORING: Journal articles Researchpeer-review

  42. 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 journalSCORING: Journal articles Researchpeer-review

  43. Kurzlehrbuch Pädiatrie

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

    Research output: SCORING: Book or contribution to book/anthologySCORING: Contributions to collected editions/anthologiesEducationpeer-review

  44. 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 journalSCORING: Journal articles Researchpeer-review

  45. 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 journalSCORING: Journal articles Researchpeer-review

  46. Mapping the functional landscape of frequent phenylalanine hydroxylase (PAH) genotypes promotes personalised medicine in phenylketonuria

    Danecka, M. K., Woidy, M., Zschocke, J., Feillet, F., Muntau, A. C. & Gersting, S. W., 03.2015, In: J MED GENET. 52, 3, p. 175-185 11 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

  47. CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder

    Wortmann, S. B., Ziętkiewicz, S., Kousi, M., Szklarczyk, R., Haack, T. B., Gersting, S. W., Muntau, A. C., Rakovic, A., Renkema, G. H., Rodenburg, R. J., Strom, T. M., Meitinger, T., Rubio-Gozalbo, M. E., Chrusciel, E., Distelmaier, F., Golzio, C., Jansen, J. H., van Karnebeek, C., Lillquist, Y., Lücke, T., Õunap, K., Zordania, R., Yaplito-Lee, J., van Bokhoven, H., Spelbrink, J. N., Vaz, F. M., Pras-Raves, M., Ploski, R., Pronicka, E., Klein, C., Willemsen, M. A. A. P., de Brouwer, A. P. M., Prokisch, H., Katsanis, N. & Wevers, R. A., 05.02.2015, In: AM J HUM GENET. 96, 2, p. 245-57 13 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

  48. Management of adult patients with phenylketonuria: survey results from 24 countries

    Trefz, F. K., van Spronsen, F. J., MacDonald, A., Feillet, F., Muntau, A. C., Belanger-Quintana, A., Burlina, A., Demirkol, M., Giovannini, M. & Gasteyger, C., 01.2015, In: EUR J PEDIATR. 174, 1, p. 119-127 9 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

  49. Niemann-Pick Type C-2 Disease: Identification by Analysis of Plasma Cholestane-3β,5α,6β-Triol and Further Insight into the Clinical Phenotype

    Reunert, J., Lotz-Havla, A. S., Polo, G., Kannenberg, F., Fobker, M., Griese, M., Mengel, E., Muntau, A. C., Schnabel, P., Sommerburg, O., Borggraefe, I., Dardis, A., Burlina, A. P., Mall, M. A., Ciana, G., Bembi, B., Burlina, A. B. & Marquardt, T., 2015, JMID Reports. 1 ed. Springer, Vol. 23. p. 17-26 (JIMD Reports; vol. 23).

    Research output: SCORING: Book or contribution to book/anthologySCORING: Contributions to collected editions/anthologiesResearchpeer-review

  50. The Kuvan(®) Adult Maternal Paediatric European Registry (KAMPER) Multinational Observational Study: Baseline and 1-Year Data in Phenylketonuria Patients Responsive to Sapropterin

    Trefz, F. K., Muntau, A. C., Lagler, F. B., Moreau, F., Alm, J., Burlina, A., Rutsch, F., Bélanger-Quintana, A., Feillet, F. & KAMPER investigators, 2015, In: JIMD reports. 23, p. 35-43

    Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

  51. 2014
  52. Use of sapropterin dihydrochloride in maternal phenylketonuria. A European experience of eight cases

    Feillet, F., Muntau, A. C., Debray, F-G., Lotz-Havla, A. S., Puchwein-Schwepcke, A., Fofou-Caillierez, M. B., van Spronsen, F. & Trefz, F. F., 01.09.2014, In: J INHERIT METAB DIS. 37, 5, p. 753-62 10 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

  53. An interactive network of elastase, secretases, and PAR-2 protein regulates CXCR1 receptor surface expression on neutrophils

    Bakele, M., Lotz-Havla, A. S., Jakowetz, A., Carevic, M., Marcos, V., Muntau, A. C., Gersting, S. W. & Hartl, D., 25.07.2014, In: J BIOL CHEM. 289, 30, p. 20516-25 10 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

  54. Innovative strategies to treat protein misfolding in inborn errors of metabolism: pharmacological chaperones and proteostasis regulators

    Muntau, A. C., Leandro, J., Staudigl, M., Mayer, F. & Gersting, S. W., 01.07.2014, In: J INHERIT METAB DIS. 37, 4, p. 505-23 19 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

  55. Rad50-CARD9 interactions link cytosolic DNA sensing to IL-1β production

    Roth, S., Rottach, A., Lotz-Havla, A. S., Laux, V., Muschaweckh, A., Gersting, S. W., Muntau, A. C., Hopfner, K-P., Jin, L., Vanness, K., Petrini, J. H. J., Drexler, I., Leonhardt, H. & Ruland, J., 01.06.2014, In: NAT IMMUNOL. 15, 6, p. 538-45 8 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

  56. The domain-specific and temperature-dependent protein misfolding phenotype of variant medium-chain acyl-CoA dehydrogenase

    Jank, J. M., Maier, E. M., Reiβ, D. D., Haslbeck, M., Kemter, K. F., Truger, M. S., Sommerhoff, C. P., Ferdinandusse, S., Wanders, R. J., Gersting, S. W. & Muntau, A. C., 01.01.2014, In: PLOS ONE. 9, 4, p. e93852

    Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

  57. Angeborene Störungen des Kohlenhydratstoffwechsels und sonstige angeborene Stoffwechselstörungen

    Muntau, A. C., 2014, Therapie der Krankheiten im Kindes- und Jugendalter. Reinhardt, D., Nicolai, T. & Zimmer, K-P. (eds.). 9 ed. Berlin Heidelberg: Springer, p. 117-132 16 p.

    Research output: SCORING: Book or contribution to book/anthologySCORING: Contributions to collected editions/anthologiesResearchpeer-review

  58. 2013
  59. Fluctuations in phenylalanine concentrations in phenylketonuria: a review of possible relationships with outcomes

    Cleary, M., Trefz, F., Muntau, A. C., Feillet, F., van Spronsen, F. J., Burlina, A., Bélanger-Quintana, A., Giżewska, M., Gasteyger, C., Bettiol, E., Blau, N. & MacDonald, A., 01.12.2013, In: MOL GENET METAB. 110, 4, p. 418-23 6 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

  60. Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

    van de Kamp, J. M., Betsalel, O. T., Mercimek-Mahmutoglu, S., Abulhoul, L., Grünewald, S., Anselm, I., Azzouz, H., Bratkovic, D., de Brouwer, A., Hamel, B., Kleefstra, T., Yntema, H., Campistol, J., Vilaseca, M. A., Cheillan, D., D'Hooghe, M., Diogo, L., Garcia, P., Valongo, C., Fonseca, M., Frints, S., Wilcken, B., von der Haar, S., Meijers-Heijboer, H. E., Hofstede, F., Johnson, D., Kant, S. G., Lion-Francois, L., Pitelet, G., Longo, N., Maat-Kievit, J. A., Monteiro, J. P., Munnich, A., Muntau, A. C., Nassogne, M. C., Osaka, H., Ounap, K., Pinard, J. M., Quijano-Roy, S., Poggenburg, I., Poplawski, N., Abdul-Rahman, O., Ribes, A., Arias, A., Yaplito-Lee, J., Schulze, A., Schwartz, C. E., Schwenger, S., Soares, G., Sznajer, Y., Valayannopoulos, V., Van Esch, H., Waltz, S., Wamelink, M. M. C., Pouwels, P. J. W., Errami, A., van der Knaap, M. S., Jakobs, C., Mancini, G. M. & Salomons, G. S., 01.07.2013, In: J MED GENET. 50, 7, p. 463-72 10 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

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