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Biochemical phenotype of hypophosphatasia in asymptomatic individuals carrying ALPL variants
Montero-Lopez, R., Farman, M. R., Högler, F., Rehder, C., Malli, T., Webersinke, G., Rockman-Greenberg, C., Dahir, K., Martos-Moreno, G. Á., Linglart, A., Ozono, K., Seefried, L., Del Angel, G., Nading, E. B., Huggins, E., Rush, E. T., Tauer, J. T., Kishnani, P. S. & Högler, W., 01 Mar 2026, In: Journal of Bone and Mineral Research. 41, 3, p. 259-269 11 p., zjaf124.Research output: Contribution to journal › Article › peer-review
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ABCD-Syndrom als Ursache einer persistierenden Hyperkalzämie bei Trisomie 21
Schirl, J., Laurer, E., Hörtenhuber, T., Blaschitz, A., Fritz, T., Tamas, M., Högler, W. & Montero-Lopez, R., 20 Aug 2025, In: Monatsschrift Kinderheilkunde. S 2, p. 117 P02-04.Research output: Contribution to journal › Poster Abstract › peer-review
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Challenges in Hypophosphatasia: Suspicion, Diagnosis, Genetics, Management, and Follow-Up
Montero-Lopez, R., Farman, M. R., Högler, F., Saraff, V. & Högler, W., Dec 2025, In: Horm Res Paed. 98, 6, p. 736-745 10 p.Research output: Contribution to journal › Review article › peer-review
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Insulinom in der Pädiatrie – eine seltene Differenzialdiagnose zur Epilepsie
Tamas, M., Hörtenhuber, T., Bonfig, W., Montero-Lopez, R., Laurer, E., Blaschitz, A., Fritz, T., Schirl, J. & Högler, W., 20 Aug 2025, In: Monatsschrift Kinderheilkunde. S 2, p. 117 P02-06.Research output: Contribution to journal › Poster Abstract › peer-review
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Kognitive Entwicklungsverzögerung bei zwei Brüdern mit familiärer dysalbuminämischer Hyperthyroxinämie, verursacht durch eine ALB-Variante
Fritz, T., Montero-Lopez, R., Blaschitz, A., Laurer, E., Hörtenhuber, T., Schirl, J., Tamas, M., Nagy, D. & Högler, W., 20 Aug 2025, In: Monatsschrift Kinderheilkunde. S 2, p. 116 P02-03.Research output: Contribution to journal › Poster Abstract › peer-review
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reACHin: A Phase 2, Multicenter, Double-Blind, Randomized, Placebo-controlled Trial, evaluating Safety, Tolerability, and Efficacy of Subcutaneous Doses of TransCon CNP Administered Once Weekly for 52 Weeks in Infants (0 to <2 years of age) with Achondroplasia followed by an Open Label Extension (OLE) period
Montero Lopez, R. (Researcher) & Högler, W. (PI)
30.06.2024 → 31.12.2030
Project: Clinical studies › Clinical Study (Industry project)
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AttaCH: A Phase 2, Multicenter, Long-Term, Open Label Extension Trial Evaluating Safety, Tolerability, and Efficacy of Subcutaneous Doses of TransCon CNP Administered Once Weekly in Children and Adolescents with Achondroplasia
Hörtenhuber, T. (Researcher), Montero Lopez, R. (Researcher), Tischlinger, K. (Researcher) & Högler, W. (PI)
06.12.2023 → 31.12.2030
Project: Clinical studies › Clinical Study (Industry project)
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A Phase 3, Open-label, Multicenter, Randomized Study to Evaluate the Efficacy and Safety of Romosozumab Compared with Bisphosphonates in Children and Adolescents With Osteogenesis Imperfecta
Blaschitz, A. (Researcher), Montero Lopez, R. (Researcher) & Högler, W. (PI)
01.12.2023 → 30.01.2028
Project: Clinical studies › Clinical Study (Industry project)
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CrescNet: Register für erkrankungsbezogene Wachstums- und Gewichtsentwicklungsstörungen
Blaschitz, A. (Researcher), Högler, W. (Researcher), Laurer, E. (Researcher), Montero Lopez, R. (Researcher), Tischlinger, K. (Researcher) & Hörtenhuber, T. (PI)
06.12.2022 → 31.12.2030
Project: Clinical studies › Clinical Study (Academic - no third-party funds)
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Unterschiede im strukturellen Knochenphänotyp bei Kindern und jungen Erwachsenen mit T1DM
Montero Lopez, R. (Researcher), Schuhmann, V. (Researcher) & Högler, W. (PI)
01.01.2024 → 08.07.2024
Project: Other › Master thesis project
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Insulinom in der Pädiatrie – eine seltene Differenzialdiagnose zur „Epilepsie“
Hörtenhuber, T. (Contributor), Bonfig, W. (Contributor), Toapanta Serrano, L. C. (Contributor), Montero Lopez, R. (Contributor), Laurer, E. (Contributor), Blaschitz, A. (Contributor), Högler, W. (Contributor), Tamas, M. (Speaker), Fritz, T. (Contributor), Schirl, J. (Contributor) & Schuhmann, V. (Contributor)
10 Sept 2025 → 12 Sept 2025Activity: Talk or presentation › Poster presentation › science-to-science
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Diabetic Bone Disease: Trabecular Bone Density and Microarchitectural Deficits in Young Men with Type 1 Diabetes
Montero Lopez, R. (Speaker)
04 Sept 2025Activity: Talk or presentation › Poster presentation › science-to-science
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Persistent hypercalcaemia in trisomy 21: consider ABCD syndrome
Laurer, E. (Speaker), Blaschitz, A. (Speaker), Wimleitner, M. (Speaker), Hörtenhuber, T. (Speaker), Högler, W. (Speaker), Montero-Lopez, R. (Speaker) & Schirl, J. (Speaker)
10 May 2025 → 13 Oct 2025Activity: Talk or presentation › Poster presentation › science-to-science
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New clinical phenotypes associated with ALPL mutations
Farman, M. (Speaker), Rehder, C. (Speaker), Rockman-Greenberg, C. (Speaker), Malli, T. (Speaker), Dahir, K. (Speaker), Linglart, A. (Speaker), Ozono, K. (Speaker), Seefried, L. (Speaker), del Angel, G. (Speaker), Högler, F. (Speaker), Montero-Lopez, R. (Speaker), Barbazza, F. (Speaker), Burner Nading, E. (Speaker), Huggins, E. (Speaker), Rush, E. (Speaker), Tauer, J. (Speaker), Kishnani, P. (Speaker), Webersinke, G. (Speaker) & Högler, W. (Speaker)
18 Nov 2024Activity: Talk or presentation › Poster presentation › science-to-science
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New clinical phenotypes associated with ALPL mutations
Farman, M. (Speaker), Rehder, C. (Speaker), Malli, T. (Speaker), Rockman-Greenberg, C. (Speaker), Dahir, K. (Speaker), Martos-Moreno, G. Á. (Speaker), Linglart, A. (Speaker), Ozono, K. (Speaker), Seefried, L. (Speaker), del Angel, G. (Speaker), Högler, F. (Speaker), Montero-Lopez, R. (Speaker), Barbazza, F. (Speaker), Burner Nading, E. (Speaker), Rush, E. (Speaker), Muhammad, K. J. (Speaker), Tauer, J. (Speaker), Kishnani, P. (Speaker), Webersinke, G. (Speaker) & Högler, W. (Speaker)
16 Nov 2024Activity: Talk or presentation › Poster presentation › science-to-science