Onderzoeksoutput per jaar
Onderzoeksoutput per jaar
- 20 resultaten
Zoekresultaten
-
2025
Loss-of-Function GHSR Variants Are Associated With Short Stature and Low IGF-I
Punt, L. D., Kooijman, S., Mutsters, N. J. M., Yue, K., van der Kaay, D. C. M., van Tellingen, V., Bakker-van Waarde, W. M., Boot, A. M., van den Akker, E. L. T., van Boekholt, A. A., de Groote, K., Kruijsen, A. R., van Nieuwaal-van Maren, N. H. G., Woltering, M. C., Heijligers, M., van der Heyden, J. C., Bannink, E. M. N., Rinne, T., Hannema, S. E. & de Waal, W. J. & 9 anderen, , mei-2025, In: Journal of Clinical Endocrinology and Metabolism. 110, 5, blz. e1303-e1314 12 blz.Onderzoeksoutput: Article › Academic › peer review
Open AccessBestand9 Downloads (Pure) -
Tertiary hyperparathyroidism in two paediatric patients with X-linked hypophosphatemia during Burosumab treatment
Padidela, R., Rayner, L. & Boot, A. M., jan.-2025, In: Bone. 190, 3 blz., 117324.Onderzoeksoutput: Article › Academic › peer review
Open AccessBestand2 Citaten (Scopus)58 Downloads (Pure) -
“Spinning” bone-anchored hearing implantation in a 5-year old child: A case report
Aukema, T. W., van Veen, W. J., Boot, A. M., McDermott, A. L. & Hol, M. K. S., mrt.-2025, In: Otolaryngology Case Reports. 34, 2 blz., 100656.Onderzoeksoutput: Article › Academic › peer review
Open AccessBestand19 Downloads (Pure) -
2024
A patient-centred and multi-stakeholder co-designed observational prospective study protocol: Example of the adolescent experience of treatment for X-linked hypophosphataemia (XLH)
Saraff, V., Boot, A. M., Linglart, A., Semler, O., Harvengt, P., Williams, A., Bailey, K. M. A., Glen, F., Davies, E. H., Wood, S., Greentree, S. & Rylands, A. J., jan.-2024, In: PLoS ONE. 19, 1 , 15 blz., e0295080.Onderzoeksoutput: Article › Academic › peer review
Open AccessBestand1 Citaat (Scopus)67 Downloads (Pure) -
Disease Manifestations and Complications in Dutch X-Linked Hypophosphatemia Patients
Bosman, A., Appelman-Dijkstra, N. M., Boot, A. M., de Borst, M. H., van de Ven, A. C., de Jongh, R. T., Bökenkamp, A., van den Bergh, J. P., van der Eerden, B. C. J. & Zillikens, M. C., mrt.-2024, In: Calcified tissue international. 114, 3, blz. 255-266 12 blz.Onderzoeksoutput: Article › Academic › peer review
Open AccessBestand2 Citaten (Scopus)103 Downloads (Pure) -
Fibroblast growth factor 23 and calcium-phosphate metabolism in relation to cardiovascular risk factors in patients with type 1 diabetes
Vermeulen, S., Scheffer-Rath, M. E. A., Besouw, M. T. P., van der Vaart, A., de Borst, M. H. & Boot, A. M., jun.-2024, In: Journal of diabetes. 16, 6, 10 blz., e13500.Onderzoeksoutput: Article › Academic › peer review
Open AccessBestand2 Citaten (Scopus)66 Downloads (Pure) -
Real-world non-interventional post-authorization safety study of long-term use of burosumab in children and adolescents with X-linked hypophosphatemia: first interim analysis
M. Boot, A., Ariceta, G., Beck-Nielsen, S. S., Brandi, M. L., Briot, K., Collantes, C. D. L., Giannini, S., Haffner, D., Keen, R., Levtchenko, E., Mughal, M. Z., Makitie, O., Nilsson, O., Schnabel, D., Tripto-Shkolnik, L., Zillikens, M. C., Liu, J., Tudor, A. & Emma, F., 2024, In: Therapeutic advances in chronic disease. 15, 15 blz.Onderzoeksoutput: Article › Academic › peer review
Open AccessBestand4 Citaten (Scopus)62 Downloads (Pure) -
2023
10 years' experience of a global and freely accessible e-Learning website for paediatric endocrinology and diabetes
Ng, S. M., Kalaitzoglou, E., Utari, A., Van Wijngaard-Devugt, C., Donaldson, M., Wolfsdorf, J. I., Boot, A. M. & Drop, S., aug.-2023, In: Hormone Research in Paediatrics. 96, 4, blz. 366–375 10 blz.Onderzoeksoutput › Academic › peer review
Open AccessBestand1 Citaat (Scopus)79 Downloads (Pure) -
A novel mutation in PTHLH in a family with a variable phenotype with brachydactyly, short stature, oligodontia and developmental delay
Scheffer-Rath, M. E. A., Veenstra-Knol, H. E. & Boot, A. M., dec.-2023, In: Bone reports. 19, 5 blz., 101699.Onderzoeksoutput: Article › Academic › peer review
Open AccessBestand3 Citaten (Scopus)127 Downloads (Pure) -
Osteoporosis in children and adolescents: how to treat and monitor?
Ciancia, S., Högler, W., Sakkers, R. J. B., Appelman-Dijkstra, N. M., Boot, A. M., Sas, T. C. J. & Renes, J. S., feb.-2023, In: European Journal of Pediatrics. 182, blz. 501-511 11 blz.Onderzoeksoutput: Review article › peer review
Open AccessBestand29 Citaten (Scopus)486 Downloads (Pure) -
The International X-Linked Hypophosphatemia (XLH) Registry: first interim analysis of baseline demographic, genetic and clinical data
Ariceta, G., Beck-Nielsen, S. S., Boot, A. M., Brandi, M. L., Briot, K., de Lucas Collantes, C., Emma, F., Giannini, S., Haffner, D., Keen, R., Levtchenko, E., Mӓkitie, O., Mughal, M. Z., Nilsson, O., Schnabel, D., Tripto-Shkolnik, L., Liu, J., Williams, A., Wood, S. & Zillikens, M. C., dec.-2023, In: Orphanet journal of rare diseases. 18, 17 blz., 304.Onderzoeksoutput: Article › Academic › peer review
Open AccessBestand20 Citaten (Scopus)78 Downloads (Pure) -
Vertebral fracture in a 7-year-old boy with indolent systemic mastocytosis
Bocca-Tjeertes, I. F. A., Boot, A. M., Brand, H. K., van Doormaal, J. J. & Oude Elberink, H. N. G., okt.-2023, In: The Journal of Allergy and Clinical Immunology: In Practice. 11, 10, blz. 3269-3271 3 blz.Onderzoeksoutput › Academic › peer review
Open AccessBestand82 Downloads (Pure) -
2022
Body mass index at diagnosis of a childhood brain tumor; a reflection of hypothalamic-pituitary dysfunction or lifestyle?
van Roessel, I. M. A. A., van Schaik, J., Meeteren, A. Y. N. S. V., Boot, A. M., der Grinten, H. L. C. V., Clement, S. C., van Iersel, L., Han, K. S., van Trotsenburg, A. S. P., Vandertop, W. P., Kremer, L. C. M. & van Santen, H. M., jul.-2022, In: Supportive Care in Cancer. 30, blz. 6093–6102 10 blz.Onderzoeksoutput: Article › Academic › peer review
Open AccessBestand5 Citaten (Scopus)74 Downloads (Pure) -
Changes in body size and body composition in survivors of childhood cancer: seven years follow-up of a prospective cohort study
Brinksma, A., Sulkers, E., Kouwenberg, D., Lelieveld, O. T. H. M., Boot, A. M., Burgerhof, J. G. M. & Tissing, W. J. E., dec.-2022, In: Clinical Nutrition. 41, 12, blz. 2778-2785 8 blz.Onderzoeksoutput: Article › Academic › peer review
Open AccessBestand6 Citaten (Scopus)204 Downloads (Pure) -
Clinical presentation and molecular genetic analysis of a Sudanese family with a novel mutation in the CYP2R1 gene
Abdalla, A. T., Koedam, M., Drop, S. L. S., Boot, A. M., Abdullah, M. A. & van der Eerden, B. C. J., 30-nov.-2022, In: Gene. 844, 5 blz., 146809.Onderzoeksoutput: Article › Academic › peer review
Open AccessBestand2 Citaten (Scopus)64 Downloads (Pure) -
Osteoporosis in children and adolescents: when to suspect and how to diagnose it
Ciancia, S., van Rijn, R. R., Hoegler, W., Appelman-Dijkstra, N. M., Boot, A. M., Sas, T. C. J. & Renes, J. S., jul.-2022, In: European Journal of Pediatrics. 181, blz. 2549–2561 13 blz.Onderzoeksoutput: Review article › peer review
Open AccessBestand50 Citaten (Scopus)151 Downloads (Pure) -
Post-authorisation safety study of burosumab use in paediatric, adolescent and adult patients with X-Linked hypophosphataemia: rationale and description
Brandi, M. L., Ariceta, G., Beck-Nielsen, S. S., Boot, A. M., Briot, K., de Lucas Collantes, C., Emma, F., Giannini, S., Haffner, D., Keen, R., Levtchenko, E., Makitie, O., Nilsson, O., Schnabel, D., Tripto-Shkolnik, L., Zillikens, M. C., Liu, J., Tudor, A. & Mughal, M. Z., dec.-2022, In: Therapeutic advances in chronic disease. 13, blz. 1-13 13 blz.Onderzoeksoutput: Article › Academic › peer review
Open AccessBestand8 Citaten (Scopus)70 Downloads (Pure) -
Sustained Efficacy and Safety of Burosumab, a Monoclonal Antibody to FGF23, in Children With X-Linked Hypophosphatemia
Linglart, A., Imel, E. A., Whyte, M. P., Portale, A. A., Hogler, W., Boot, A. M., Padidela, R., Van't Hoff, W., Gottesman, G. S., Chen, A., Skrinar, A., Roberts, M. S. & Carpenter, T. O., mrt.-2022, In: Journal of Clinical Endocrinology & Metabolism. 107, 3, blz. 813-824 12 blz.Onderzoeksoutput: Article › Academic › peer review
Open AccessBestand73 Citaten (Scopus)148 Downloads (Pure) -
2020
Multilingual global e-learning pediatric endocrinology and diabetes curriculum for front line health care providers in resource-limited countries: Development study
Kalaitzoglou, E., Majaliwa, E., Zacharin, M., de Beaufort, C., Chanoine, J. P., van Wijngaard-DeVugt, C., Sperla, E., Boot, A. M. & Drop, S. L. S., 5-nov.-2020, In: JMIR Formative Research. 4, 11, 9 blz., e18555.Onderzoeksoutput › Academic › peer review
Open AccessBestand5 Citaten (Scopus)30 Downloads (Pure) -
The Many Facets of Vitamin D in the Pediatric Population
Scheffer-Rath, M. E. & Boot, A. M., aug.-2020, In: Pediatric endocrinology reviews : PER. 17, 4, blz. 293-301 9 blz.Onderzoeksoutput › peer review
Open AccessBestand3 Citaten (Scopus)28 Downloads (Pure)