Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Marion Herle"'
Autor:
Stella Knöpfli, Bernadette Goeschl, Maximilian Zeyda, Anna Baghdasaryan, Margot Baumgartner-Kaut, Matthias R. Baumgartner, Marion Herle, Julian Margreitter, Martin Poms, Saskia B. Wortmann, Vassiliki Konstantopoulou, Martina Huemer
Publikováno v:
International Journal of Neonatal Screening, Vol 10, Iss 2, p 40 (2024)
Vitamin B12 (B12) deficiency (B12D) can have detrimental effects on early growth and development. The Austrian newborn screening (NBS) program targets inborn errors of cobalamin metabolism and also detects B12D. Of 59 included neonates with B12D susp
Externí odkaz:
https://doaj.org/article/828e56356a734ec4bf9869a698e27071
Autor:
Marion Herle, Michaela Brunner-Krainz, Daniela Karall, Bernadette Goeschl, Dorothea Möslinger, Joachim Zobel, Barbara Plecko, Sabine Scholl-Bürgi, Johannes Spenger, Saskia B. Wortmann, Martina Huemer
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-7 (2021)
Abstract Background In classical phenylketonuria (PKU) phenylalanine (Phe) accumulates due to functional impairment of the enzyme phenylalanine hydroxylase caused by pathogenic variants in the PAH gene. PKU treatment prevents severe cognitive impairm
Externí odkaz:
https://doaj.org/article/88a457fb770c4c1b99402a02a2070f50
Autor:
Fatma Zehra Oztek-Celebi, Marion Herle, Valentin Ritschl, Lukas Kaltenegger, Tanja Stamm, Christoph Aufricht, Michael Boehm
Publikováno v:
Frontiers in Pediatrics, Vol 7 (2019)
Background: Kidney transplantation is the preferred treatment modality for children with end-stage renal disease. In the adult population, migration-related modifiable factors were associated with low living donation rates; no such data are available
Externí odkaz:
https://doaj.org/article/7e0b094c78ea4e1d87809ceb0cf35f50
Publikováno v:
Journal für Klinische Endokrinologie und Stoffwechsel. 16:34-40
ZusammenfassungEs liegen umfassende Empfehlungen zur Transition chronisch kranker Kinder in die Erwachsenenmedizin vor, vor allem bei Jugendlichen mit seltenen Erkrankungen sind jedoch weiterhin strukturelle Verbesserungen nötig. In diesem Artikel s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::325e9ba0cf16193cc93e97dc8a56d83e
https://doi.org/10.1007/s41969-023-00186-3
https://doi.org/10.1007/s41969-023-00186-3
Publikováno v:
European journal of pediatrics. 181(3)
In the last decade, health-related quality of life (HrQoL) has become an increasingly important outcome parameter in children and adolescents with chronic health conditions; among them are pediatric patients with inborn metabolic diseases (IMDs). Hen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d2d863ce84fc7b5bcaf1b7fc3e919ee
https://pubmed.ncbi.nlm.nih.gov/34718865
https://pubmed.ncbi.nlm.nih.gov/34718865
Autor:
Gudrun Wagner, Diana-Alexandra Ertl, Elke Fröhlich-Reiterer, Caroline Culen, Peter Blümel, Marion Herle, Gabriele Häusler
Publikováno v:
Clinical Endocrinology
Objective Young women with Turner syndrome (TS) are known to be at risk for loss to medical follow‐up. Recent literature indicates that there are disparities regarding transition readiness between different chronic conditions. So far, studies in yo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1896202272c47bc98595f2be8c2fe576
https://pubmed.ncbi.nlm.nih.gov/33464630
https://pubmed.ncbi.nlm.nih.gov/33464630
Autor:
Caroline Culen, Marion Herle, Marianne König, Sophie-Helene Hemberger, Sanja Seferagic, Carolin Talaska, Diana-Alexandra Ertl, Gudrun Wagner, Christine Straub, Kiana Johnson, David L. Wood, Gabriele Häusler
Publikováno v:
Journal of Transition Medicine, Vol 1, Iss 1, Pp 134-6 (2019)
ObjectiveTransfer from pediatric care into the adult health care system is known to be a vulnerable phase in the lives of youth with special health care needs (YSHCN). Recommendations from the literature favor assessment of transition readiness rathe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::924c50d0b88fa5fdda5f0fa9cddb7af9
https://doi.org/10.1515/jtm-2018-0005
https://doi.org/10.1515/jtm-2018-0005
Autor:
Tanja Stamm, Fatma Zehra Oztek-Celebi, Marion Herle, Michael Boehm, Lukas Kaltenegger, Christoph Aufricht, Valentin Ritschl
Publikováno v:
Frontiers in Pediatrics, Vol 7 (2019)
Frontiers in Pediatrics
Frontiers in Pediatrics
Background: Kidney transplantation is the preferred treatment modality for children with end-stage renal disease. In the adult population, migration-related modifiable factors were associated with low living donation rates; no such data are available
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7cdfe4b99f27649d64524d5787cafd0d
https://www.frontiersin.org/article/10.3389/fped.2019.00025/full
https://www.frontiersin.org/article/10.3389/fped.2019.00025/full
Publikováno v:
Journal of Inherited Metabolic Disease. 35:1147-1152
European Health Care Systems have not yet accommodated both previous and current migration waves. Children from immigrant families, especially children with chronic conditions, are particularly affected from the shortcomings in medical care. One cond
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4dcf73b3099d2202ecda91e7a2eac46f
https://doi.org/10.1007/s10545-012-9455-4
https://doi.org/10.1007/s10545-012-9455-4
Autor:
Marion Herle, Nicole Pavitschitz, Agnes Panagl, Maria Theresia Schubert, Daniela Schuh, Sigrid Jalowetz
Publikováno v:
Zeitschrift für Medizinische Psychologie. 21:3-10
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::531173a3e7f0e97592341d38537a7e98
https://doi.org/10.3233/zmp-2011-2025
https://doi.org/10.3233/zmp-2011-2025