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Bertram Pontz

Prof. Dr. Dr.

Former affiliation
1970 …2010

Research activity per year

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Expertise related to UN Sustainable Development Goals

In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):

  1. SDG 3 - Good Health and Well-being
    SDG 3 Good Health and Well-being

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  • Schimke immunoosseous dysplasia: Defining skeletal features

    Hunter, K. B., Lücke, T., Spranger, J., Smithson, S. F., Alpay, H., André, J. L., Asakura, Y., Bogdanovic, R., Bonneau, D., Cairns, R., Cransberg, K., Fründ, S., Fryssira, H., Goodman, D., Helmke, K., Hinkelmann, B., Lama, G., Lamfers, P., Loirat, C. & Majore, S. & 10 others, Mayfield, C., Pontz, B. F., Rusu, C., Saraiva, J. M., Schmidt, B., Shoemaker, L., Sigaudy, S., Stajic, N., Taha, D. & Boerkoel, C. F., Jul 2010, In: European Journal of Pediatrics. 169, 7, p. 801-811 11 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    21 Scopus citations

  • Hyperbaric oxygen treatment restores sudden hearing loss in a patient with fabry disease

    Frantz, M. C., Pontz, B. F. & Arnold, W., Apr 2008, In: ORL. 70, 3, p. 210-213 4 p.

    Research output: Contribution to journal › Article › peer-review

    4 Scopus citations

  • Morbus Fabry: Fallbericht unter besonderer berücksichtigung der enzymersatztherapie sowie möglicher zukünftiger therapieoptionen

    Translated title of the contribution: Fabry disease: Case report with emphasis on enzyme replacement therapy and possible future therapeutic optionsMöhrenschlager, M., Pontz, B. F., Lanzl, I., Podskarbi, T., Henkel, V. & Ring, J., Jul 2007, In: JDDG - Journal of the German Society of Dermatology. 5, 7, p. 594-597 4 p.

    Research output: Contribution to journal › Article › peer-review

    6 Scopus citations

  • Schimke immunoosseous dysplasia: Suggestions of genetic diversity

    Clewing, J. M., Fryssira, H., Goodman, D., Smithson, S. F., Sloan, E. A., Lou, S., Huang, Y., Choi, K., Lücke, T., Alpay, H., André, J. L., Asakura, Y., Biebuyck-Gouge, N., Bogdanovic, R., Bonneau, D., Cancrini, C., Cochat, P., Cockfield, S., Collard, L. & Cordeiro, I. & 41 others, Cormier-Daire, V., Cransberg, K., Cutka, K., Deschenes, G., Ehrich, J. H. H., Fründ, S., Georgaki, H., Guillen-Navarro, E., Hinkelmann, B., Kanariou, M., Kasap, B., Kilic, S. S., Lama, G., Lamfers, P., Loirat, C., Majore, S., Milford, D., Morin, D., Özdemir, N., Pontz, B. F., Proesmans, W., Psoni, S., Reichenbach, H., Reif, S., Rusu, C., Saraiva, J. M., Sakallioglu, O., Schmidt, B., Shoemaker, L., Sigaudy, S., Smith, G., Sotsiou, F., Stajic, N., Stein, A., Stray-Pedersen, A., Taha, D., Taque, S., Tizard, J., Tsimaratos, M., Wong, N. A. C. S. & Boerkoel, C. F., Mar 2007, In: Human Mutation. 28, 3, p. 273-283 11 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    54 Scopus citations

  • 32-Jähriger patient mit pathololgischer humerus-fraktur, splenomegalie und thrombozytopenie

    Translated title of the contribution: 32-Year old male patient with a pathological fracture of his right humerus, splenomegaly and thrombocytopeniaDürr, E. M., Geiß, H. C., Pontz, B. F. & Parhofer, K. G., Apr 2004, In: Internist. 45, 4, p. 455-460 6 p.

    Research output: Contribution to journal › Article › peer-review

    1 Scopus citations
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