نتائج البحث - "Beck-Nielsen, Signe"

1

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

المؤلفون: 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, 1970, Schnabel, Dirk, Tripto-Shkolnik, Liana, Zillikens, M. Carola, Liu, Jonathan, Tudor, Alina, Emma, Francesco

المصدر: Therapeutic advances in chronic disease. 15

مصطلحات موضوعية: X-linked hypophosphatemia, burosumab, patient registry, post-authorization safety study, safety

وصف الملف: print

الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:oru:diva-113764Test
https://doi.org/10.1177/20406223241247643Test

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2

دورية أكاديمية

Clinical presentation and genetics of tricho-rhino-phalangeal syndrome (TRPS) type 1:a single-center case series of 15 patients and seven novel TRPS1 variants

المؤلفون: Herlin, Laura Krogh, Herlin, Morten Krogh, Blechingberg, Jenny, Stausholm, Kirsten Rønholt, Graversen, Lise, Schmidt, Sigrun Alba Johannesdottir, Jørgensen, Mette Warming, Hellfritzsch, Michel Bach, Hald, Jannie Dahl, Beck-Nielsen, Signe Sparre, Gjørup, Hans, Andersen, Brian Nauheimer, Gregersen, Pernille Axél, Sommerlund, Mette

المصدر: Herlin , L K , Herlin , M K , Blechingberg , J , Stausholm , K R , Graversen , L , Schmidt , S A J , Jørgensen , M W , Hellfritzsch , M B , Hald , J D , Beck-Nielsen , S S , Gjørup , H , Andersen , B N , Gregersen , P A & Sommerlund , M 2024 , ' Clinical presentation and genetics of tricho-rhino-phalangeal syndrome (TRPS) type 1 : a single-center case series of 15 patients and seven novel TRPS1 variants ' , European Journal of Medical Genetics ....

مصطلحات موضوعية: Ectodermal dysplasia, TRPS1, Tricho-rhino-phalangeal syndrome

العلاقة: https://pure.au.dk/portal/en/publications/0fb18e9c-892c-4ea5-9b15-1bf79f09f69eTest

الإتاحة: https://doi.org/10.1016/j.ejmg.2024.104937Test
https://pure.au.dk/portal/en/publications/0fb18e9c-892c-4ea5-9b15-1bf79f09f69eTest

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3

دورية أكاديمية

The International X-Linked Hypophosphatemia (XLH) Registry: first interim analysis of baseline demographic, genetic and clinical data

المساهمون: UAM. Departamento de Pediatría

مصطلحات موضوعية: X-linked hypophosphatemia (XLH), hypophosphatemic rickets, rare disease, international, natural history, osteomalacia, patient registry, PHEX mutation, Fibroblast growth factor 23 (FGF23), Medicina

وصف الملف: application/pdf

العلاقة: Orphanet Journal of Rare Diseases; https://doi.org/10.1186/s13023-023-02882-4Test; Orphanet Journal of Rare Diseases 18 (2023): 304; 1750-1172 (online); http://hdl.handle.net/10486/709700Test; 304-1; 304-17; 18

الإتاحة: https://doi.org/10.1186/s13023-023-02882-4Test
http://hdl.handle.net/10486/709700Test

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4

The International X-Linked Hypophosphatemia (XLH) Registry: first interim analysis of baseline demographic, genetic and clinical data

المصدر: Orphanet Journal of Rare Diseases. 18(1)

مصطلحات موضوعية: Fibroblast growth factor 23 (FGF23), Hypophosphatemic rickets, International, Natural history, Osteomalacia, PHEX mutation, Patient registry, Rare disease, X-linked hypophosphatemia (XLH)

وصف الملف: print

الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:oru:diva-108579Test
https://doi.org/10.1186/s13023-023-02882-4Test

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5

دورية أكاديمية

sj-docx-1-taj-10.1177_20406223241247643 – Supplemental material for 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 ...

المؤلفون: 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

مصطلحات موضوعية: Cardiology, Endocrinology, Geriatrics and Gerontology, Neurology and Neuromuscular Diseases, FOS Clinical medicine, Aged Health Care, Pharmacology and Pharmaceutical Sciences not elsewhere classified, Psychology not elsewhere classified, Psychiatry incl. Psychotherapy, Respiratory Diseases

العلاقة: https://dx.doi.org/10.1177/20406223241247643Test

الإتاحة: https://doi.org/10.25384/sage.2585560310.1177/20406223241247643Test
https://sage.figshare.com/articles/journal_contribution/sj-docx-1-taj-10_1177_20406223241247643_Supplemental_material_for_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/25855603Test

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6

دورية أكاديمية

Giant cell tumour of bone in os sacrum of a prepubertal girl – Surgical and medical treatment with zoledronate and denosumab

المؤلفون: Beck-Nielsen, Signe Sparre, Hasle, Henrik, Safwat, Akmal, Valancius, Kestutis, Langdahl, Bente, Hansen, Ebbe Stender

المصدر: Beck-Nielsen , S S , Hasle , H , Safwat , A , Valancius , K , Langdahl , B & Hansen , E S 2023 , ' Giant cell tumour of bone in os sacrum of a prepubertal girl – Surgical and medical treatment with zoledronate and denosumab ' , Bone Reports , vol. 18 , 101687 . https://doi.org/10.1016/j.bonr.2023.101687Test

مصطلحات موضوعية: Bone markers, Bone specific alkaline phosphatase, Denosumab, Giant cell tumour of bone, Os sacrum, Prepubertal, Zoledronate

الإتاحة: https://doi.org/10.1016/j.bonr.2023.101687Test
https://pure.au.dk/portal/da/publications/giant-cell-tumour-of-bone-in-os-sacrum-of-a-prepubertal-girl--surgical-and-medical-treatment-with-zoledronate-and-denosumabTest(8aefd909-d454-478c-9da8-24c49e467c69).html
http://www.scopus.com/inward/record.url?scp=85159617439&partnerID=8YFLogxKTest

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7

دورية أكاديمية

Post-authorisation safety study of burosumab use in paediatric, adolescent and adult patients with X-linked hypophosphataemia: rationale and description

المؤلفون: Brandi, Maria Luisa, Ariceta, Gema, Beck-Nielsen, Signe Sparre, Boot, Annemieke M., Briot, Karine, Lucas Collantes, María del Carmen de, Emma, Francesco, Giannini, Sandro, Haffner, Dieter, Keen, Richard, Levtchenko, Elena, Mӓkitie, Outi, Nilsson, Ola, Schnabel, Dirk, Tripto-Shkolnik, Liana, Zillikens, M. Carola, Liu, Jonathan, Tudor, Alina, Mughal, M. Zulf

المساهمون: UAM. Departamento de Medicina

مصطلحات موضوعية: burosumab, patient registry, phosphate, post-authorisation safety study (PASS), rare bone disease, real-world evidence, X-linked hypophosphataemia (XLH), Medicina

وصف الملف: application/pdf

العلاقة: Therapeutic Advances in Chronic Disease; https://doi.org/10.1177/20406223221117471Test; Therapeutic Advances in Chronic Disease 13 (2022): 1-13; 2040-6231 (online); 2040-6223 (print); http://hdl.handle.net/10486/707396Test; 13

الإتاحة: https://doi.org/10.1177/20406223221117471Test
http://hdl.handle.net/10486/707396Test

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