Zita Krūmiņa

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Zita Krūmiņa

 https://orcid.org/0000-0002-9148-8130
20082025

Research activity per year

Personal profile

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):

  • SDG 3 - Good Health and Well-being

Field of Science

  • 1.6 Biological sciences

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Collaborations and top research areas from the last five years

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  • The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency

    Merkevicius, K., Smirnov, D., Schlieben, L. D., Ganetzky, R., Feichtinger, R. G., Jiang, H., Fang, F., Ebihara, T., Murayama, K., Ferrera, G., Ardissone, A., Rokicki, D., Wesol-Kucharska, D., Schröder, S., Bauer, P., Bertoli-Avella, A., Østergaard, E., Freisinger, P., Janssen, M. C. H. & Wagner, M. & 90 others, Abouyousef, O., Alhaddad, B., AlAbdi, L., Alkuraya, F., Alston, C. L., Baghdasaryan, A., Barca, D., Barić, I., Bellusci, M., Bevot, A., Boltshauser, E., Borggraefe, I., Bouchereau, J., Bruno, C., Burnyte, B., Calhoun, A., Casas, K., Coker, M., Crushell, E., De Lonlay, P., Dionisi-Vici, C., Distelmaier, F., Falk, M. J., Ferreira, A. C., Ferreira, C. R., Ficicioglu, C., Fatma Gokçay, G., Häberle, J., Heath, O., Hellenschmidt, A., Hoefele, J., Hoffmann, G. F., Honzik, T., Huemer, M., Janeiro, P., Karaa, A., Seher Kasapkara, Ç., Kern, I., Klepper, J., Klopstock, T., Knerr, I., Koch, J., Krūmiņa, Z., Lamperti, C., Lebigot, E., Liu, Z., Maier, E. M., Martinelli, D., McFarland, R., Mendelsohn, B., Molnar, M. J., Mundy, H., Nassogne, M.-C., Oliveira, A., Õunap, K., Panicucci, C., Parikh, S., Peters, H., Pichard, S., Plecko, B., Ramadža, D. P., Repetto, G. M., Rivera, I., Rodenburg, R. J., Rossi, A., Schiff, M., Seidemann, K., Smith, W. E., Soares, S., Siri, B., Steinbrucker, K., Striano, P., Sykut-Cegielska, J., Tal, G., Taylor, R. W., Tsiakas, K., Kalkan Ucar, S., van Konijnenburg, E. H., Woidy, M., Yaplito-Lee, J., Yildiz, Y., Zenker, M., Zsidegh, P., Westphal, D., Sperl, W., Meitinger, T., Brown, G. K., Prokisch, H., Mayr, J. A. & Wortmann, S. B. (Corresponding Author), 14 Nov 2025, (E-pub ahead of print) In: Brain.

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

  • Hearing rehabilitation in SERAC1 related MEGD(H)EL syndrome – implications from a multi-center retrospective cohort study

    Roesch, S. (Corresponding Author), O'Sullivan, A., Tschani, S., Baghdasaryan, A., Balasubramaniam, S., Barić, I., de Boer, L., Grünert, S. C., Guzek, A., Janssen, M., Krūmiņa, Z., Koenig, M. K., Lewkowitz, A. M., Mochel, F., Naldi, A. M., Plecko, B., Öztürk, K., O'Grady, L., Riordan, G. & Rymen, D. & 13 others, Sahai, I., Santer, R., Schiff, M., Stettner, G. M., Tsiakas, K., Uçar, S. K., Uzun, Ö. Ü., Weigel, C., Witters, P., Merkevicius, K., Mayr, J. A., Wortmann, S. B. & Iwanicka-Pronicka, K., 1 Sept 2025, In: Molecular Genetics and Metabolism. 146, 1-2, 109193.

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

    Open Access
    File

  • Other possible genetic causes of low ceruloplasmin levels in patients with clinically suspected Wilson’s disease

    Zariņa, A., Puzuka, A., Auzenbaha, M., Tolmane, I., Krūmiņa, Z., Gailīte, L. & Rots, D., 6 Dec 2024, In: European Journal of Human Genetics. 32, Suppl. 2, p. 1029-1030 2 p., EP08.030.

    Research output: Contribution to journal › Meeting Abstract › peer-review

    Open Access

  • Unravelling the genetic landscape of cervical insufficiency: Insights into connective tissue dysfunction and hormonal pathways

    Voložonoka, L. (Corresponding Author), Bārdiņa, L., Kornete, A., Krūmiņa, Z., Rots, D., Minkauskienė, M., Rota, A., Strelcoviene, Z., Vilne, B., Kempa, I., Miskova, A., Gailīte, L. & Rezeberga, D., Sept 2024, In: PLoS ONE. 19, 9 , e0310718.

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

    Open Access
    File
    1 Citation (Scopus)
    42 Downloads (Pure)

  • The phenotypic spectrum of PTCD3 deficiency

    Lāce, B. (Corresponding Author), Faqeih, E., Kaya, N., Krūmiņa, Z., Mayr, J. A., Mičule, I., Wright, N. T., Achleitner, M. T., AlQudairy, H., Pajusalu, S., Stavusis, J., Zayakin, P. & Inashkina, I., Sept 2024, In: JIMD Reports. 65, 5, p. 297-304 8 p.

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

    Open Access
    File
    1 Downloads (Pure)
View all 36 research outputs
  • 6 Membership of NGOs
  • 1 Organising a conference, workshop, ...
  • 1 Poster presentation
View all 8 activities