Research output per year
Research output per year
- 17 results
Search results
-
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 others, , May-2025, In: Journal of Clinical Endocrinology and Metabolism. 110, 5, p. e1303-e1314 12 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile1 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 p., 117324.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile1 Citation (Scopus)32 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., Mar-2025, In: Otolaryngology Case Reports. 34, 2 p., 100656.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile2 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 p., e0295080.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile1 Citation (Scopus)54 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., Mar-2024, In: Calcified tissue international. 114, 3, p. 255-266 12 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile1 Citation (Scopus)81 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 p., e13500.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile1 Citation (Scopus)45 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 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile3 Citations (Scopus)49 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, p. 366–375 10 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile1 Citation (Scopus)64 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 p., 101699.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile2 Citations (Scopus)90 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 p., 304.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile16 Citations (Scopus)64 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., Oct-2023, In: The Journal of Allergy and Clinical Immunology: In Practice. 11, 10, p. 3269-3271 3 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile72 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, p. 6093–6102 10 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile5 Citations (Scopus)69 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, p. 2778-2785 8 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile3 Citations (Scopus)187 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 p., 146809.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile2 Citations (Scopus)61 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, p. 1-13 13 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile7 Citations (Scopus)59 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., Mar-2022, In: Journal of Clinical Endocrinology & Metabolism. 107, 3, p. 813-824 12 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile69 Citations (Scopus)127 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 p., e18555.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile5 Citations (Scopus)19 Downloads (Pure)