Search Results - "M Boot, Annemieke"

A patient-centred and multi-stakeholder co-designed observational prospective study protocol: Example of the adolescent experience of treatment for X-linked hypophosphataemia (XLH) by Saraff, Vrinda, Boot, Annemieke M, Linglart, Agnès, Semler, Oliver, Harvengt, Pol, Williams, Angela, Bailey, Karen M A, Glen, Fiona, Davies, Elin Haf, Wood, Sue, Greentree, Stephen, Rylands, Angela J

“…The importance of patient centricity and keeping the patient at the heart of research design is now well recognised within the healthcare community. The…”
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The International X-Linked Hypophosphatemia (XLH) Registry: first interim analysis of baseline demographic, genetic and clinical data by Ariceta, Gema, Beck-Nielsen, Signe Sparre, Boot, Annemieke M, Brandi, Maria Luisa, Briot, Karine, de Lucas Collantes, Carmen, Emma, Francesco, Giannini, Sandro, Haffner, Dieter, Keen, Richard, Levtchenko, Elena, MÓkitie, Outi, Mughal, M. Zulf, Nilsson, Ola, Schnabel, Dirk, Tripto-Shkolnik, Liana, Liu, Jonathan, Williams, Angela, Wood, Sue, Zillikens, M. Carola

“…Abstract Background X-linked hypophosphatemia (XLH) is a rare, hereditary, progressive, renal phosphate-wasting disorder characterized by a pathological…”
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A novel mutation in PTHLH in a family with a variable phenotype with brachydactyly, short stature, oligodontia and developmental delay by Scheffer-Rath, Mirjam E.A., Veenstra-Knol, Hermine E., Boot, Annemieke M.

“…Mutations in PTHLH (PTH-like hormone), cause brachydactyly type E (BDE) characterized by shortening of metacarpals, metatarsals and/or phalanges with short…”
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Fibroblast growth factor 23 and calcium‐phosphate metabolism in relation to cardiovascular risk factors in patients with type 1 diabetes by Vermeulen, Stephanie, Scheffer‐Rath, Mirjam E. A., Besouw, Martine T. P., Vaart, Amarens, Borst, Martin H., Boot, Annemieke M.

“…Background Cardiovascular disease (CVD) is the major cause of mortality in type 1 diabetes (T1D). The objective of this study is to evaluate fibroblast growth…”
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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 by M Boot, Annemieke, Ariceta, Gema, Beck-Nielsen, Signe Sparre, Brandi, Maria Luisa, Briot, Karine, Collantes, Carmen de Lucas, Giannini, Sandro, Haffner, Dieter, Keen, Richard, Levtchenko, Elena, Mughal, M Zulf, Makitie, Outi, Nilsson, Ola, Schnabel, Dirk, Tripto-Shkolnik, Liana, Zillikens, M Carola, Liu, Jonathan, Tudor, Alina, Emma, Francesco

“…X-linked hypophosphatemia (XLH) is a rare, progressive disorder characterized by excess fibroblast growth factor 23 (FGF23), causing renal phosphate-wasting…”
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Tertiary hyperparathyroidism in two paediatric patients with X-linked hypophosphatemia during Burosumab treatment by Padidela, Raja, Rayner, Lauren, Boot, Annemieke M.

“…Although secondary hyperparathyroidism is known in X-linked hypophosphatemia (XLH) patients receiving treatment, tertiary hyperparathyroidism with…”
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Obesity is underestimated using body mass index and waist-hip ratio in long-term adult survivors of childhood cancer by Blijdorp, Karin, van den Heuvel-Eibrink, Marry M, Pieters, Rob, Boot, Annemieke M, Delhanty, Patric J D, van der Lely, Aart-Jan, Neggers, Sebastian J C M M

“…Obesity, represented by high body mass index (BMI), is a major complication after treatment for childhood cancer. However, it has been shown that high total…”
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Burosumab Therapy in Children with X-Linked Hypophosphatemia by Carpenter, Thomas O, Whyte, Michael P, Imel, Erik A, Boot, Annemieke M, Högler, Wolfgang, Linglart, Agnès, Padidela, Raja, van’t Hoff, William, Mao, Meng, Chen, Chao-Yin, Skrinar, Alison, Kakkis, Emil, San Martin, Javier, Portale, Anthony A

“…In patients with X-linked hypophosphatemia, which is caused by PHEX mutations and is characterized by high FGF-23 and rickets, burosumab, an FGF-23 monoclonal…”
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Chondrodysplasia, enchondromas and a chest deformity causing severe pulmonary morbidity in a boy with a PTHLH duplication: A case report by Tacke, Carline E., Terheggen-Lagro, Suzanne W.J., Boot, Annemieke M., Plomp, Astrid S., Polstra, Abeltje M., van Rijn, Rick R., Struijs, Peter A.A., van den Berg, Henk, Mooij, Christiaan F.

“…Parathyroid hormone-like hormone (PTHLH) plays an important role in bone formation. Several skeletal dysplasias have been described that are associated with…”
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Sustained Efficacy and Safety of Burosumab, a Monoclonal Antibody to FGF23, in Children With X-Linked Hypophosphatemia by Linglart, Agnès, Imel, Erik A, Whyte, Michael P, Portale, Anthony A, Högler, Wolfgang, Boot, Annemieke M, Padidela, Raja, Van't Hoff, William, Gottesman, Gary S, Chen, Angel, Skrinar, Alison, Scott Roberts, Mary, Carpenter, Thomas O

“…In X-linked hypophosphatemia (XLH), excess fibroblast growth factor-23 causes hypophosphatemia and low calcitriol, leading to musculoskeletal disease with…”
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Vitamin D in childhood and adolescence: an expert position statement by Saggese, Giuseppe, Vierucci, Francesco, Boot, Annemieke M., Czech-Kowalska, Justyna, Weber, Giovanna, Camargo, Carlos A., Mallet, Eric, Fanos, Margherita, Shaw, Nick J., Holick, Michael F.

“…Vitamin D is a key hormone in the regulation of calcium and phosphorus metabolism and plays a pivotal role in bone health, particularly during pediatric age…”
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Osteoporosis in children and adolescents: when to suspect and how to diagnose it by Ciancia, Silvia, van Rijn, Rick R., Högler, Wolfgang, Appelman-Dijkstra, Natasha M., Boot, Annemieke M., Sas, Theo C. J., Renes, Judith S.

“…Early recognition of osteoporosis in children and adolescents is important in order to establish an appropriate diagnosis of the underlying condition and to…”
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Ten-Year Experience of a Global and Freely Accessible e-Learning Website for Pediatric Endocrinology and Diabetes by Ng, Sze May, Kalaitzoglou, Evangelia, Utari, Agustini, van Wijngaard-de Vugt, Conny, Donaldson, Malcolm, Wolfsdorf, Joseph I, Boot, Annemieke M, Drop, Stenvert

“…The European Society for Paediatric Endocrinology (ESPE) interactive website, https://www.espe-elearning.org, was first published online in 2012. We describe…”
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Osteoporosis in children and adolescents: how to treat and monitor? by Ciancia, Silvia, Högler, Wolfgang, Sakkers, Ralph J. B., Appelman-Dijkstra, Natasha M., Boot, Annemieke M., Sas, Theo C. J., Renes, Judith S.

“…Osteoporosis is a condition of increased bone fragility associated with fractures. Apart from primary genetic osteoporotic conditions, secondary osteoporosis…”
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Declining free thyroxine levels over time in irradiated childhood brain tumor survivors by van Iersel, Laura, Clement, Sarah C, Schouten-van Meeteren, Antoinette Y N, Boot, Annemieke M, Claahsen-van der Grinten, Hedi L, Granzen, Bernd, Sen Han, K, Janssens, Geert O, Michiels, Erna M, van Trotsenburg, A S Paul, Vandertop, W Peter, van Vuurden, Dannis G, Caron, Hubert N, Kremer, Leontien C M, van Santen, Hanneke M

“…Objective The incidence of cranial radiotherapy (cRT)–induced central hypothyroidism (TSHD) in childhood brain tumor survivors (CBTS) is reported to be low…”
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Transforming Education through a Global e-Learning Model for Pediatric Diabetes and Endocrinology by Ng, Sze May, de Beaufort, Carine, Boot, Annemieke M, Becker, Dorothy, Wolfsdorf, Joseph I

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Prevalence and Risk Factors of Early Endocrine Disorders in Childhood Brain Tumor Survivors: A Nationwide, Multicenter Study by Clement, Sarah C, Schouten-van Meeteren, Antoinette Y N, Boot, Annemieke M, Claahsen-van der Grinten, Hedy L, Granzen, Bernd, Sen Han, K, Janssens, Geert O, Michiels, Erna M, van Trotsenburg, A S Paul, Vandertop, W Peter, van Vuurden, Dannis G, Kremer, Leontien C M, Caron, Hubert N, van Santen, Hanneke M

“…Purpose To evaluate the prevalence of, and risk factors for, early endocrine disorders in childhood brain tumor survivors (CBTS). Patients and Methods This…”
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Clinical presentation and molecular genetic analysis of a Sudanese family with a novel mutation in the CYP2R1 gene by Abdalla, Asmahan T., Koedam, Marijke, Drop, Sten L.S., Boot, Annemieke M., Abdullah, Mohamed A., van der Eerden, Bram C.J.

“…•Two siblings from consaguineous parents with a novel CYP2R1 nutation leads to complete 25(OH)D deficiency.•The first CYP2R1 mutation reported in a Sudanese…”
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Changes in body size and body composition in survivors of childhood cancer: seven years follow-up of a prospective cohort study by Brinksma, Aeltsje, Sulkers, Esther, Kouwenberg, Dorus, Lelieveld, Otto T H M, Boot, Annemieke M, Burgerhof, Johannes G M, Tissing, Wim J E

“…Cancer treatment is known to have impact on nutritional status, and both underweight and overweight have been reported in several studies in survivors. A…”
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Changes in nutritional status in childhood cancer patients: A prospective cohort study by Brinksma, Aeltsje, Roodbol, Petrie F, Sulkers, Esther, Kamps, Willem A, de Bont, Eveline S.J.M, Boot, Annemieke M, Burgerhof, Johannes G.M, Tamminga, Rienk Y.J, Tissing, Wim J.E

“…Summary Background & aims Under- and overnutrition are linked to adverse outcomes during and after childhood cancer treatment. Therefore, understanding the…”
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