Zobrazeno 1 - 10
of 53
pro vyhledávání: '"Signe Sparre Beck-Nielsen"'
Autor:
Annemieke M. Boot, Gema Ariceta, Signe Sparre Beck-Nielsen, Maria Luisa Brandi, Karine Briot, Carmen de Lucas Collantes, Sandro Giannini, Dieter Haffner, Richard Keen, Elena Levtchenko, M. Zulf Mughal, Outi Mӓkitie, Ola Nilsson, Dirk Schnabel, Liana Tripto-Shkolnik, M. Carola Zillikens, Jonathan Liu, Alina Tudor, Francesco Emma
Publikováno v:
Therapeutic Advances in Chronic Disease, Vol 15 (2024)
Background: X-linked hypophosphatemia (XLH) is a rare, progressive disorder characterized by excess fibroblast growth factor 23 (FGF23), causing renal phosphate-wasting and impaired active vitamin D synthesis. Burosumab is a recombinant human monoclo
Externí odkaz:
https://doaj.org/article/ad24bc6611d64fadbf932d2c17d3938c
Autor:
Gema Ariceta, Signe Sparre Beck-Nielsen, Annemieke M. Boot, Maria Luisa Brandi, Karine Briot, Carmen de Lucas Collantes, Francesco Emma, Sandro Giannini, Dieter Haffner, Richard Keen, Elena Levtchenko, Outi Mӓkitie, M. Zulf Mughal, Ola Nilsson, Dirk Schnabel, Liana Tripto-Shkolnik, Jonathan Liu, Angela Williams, Sue Wood, M. Carola Zillikens
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-17 (2023)
Abstract Background X-linked hypophosphatemia (XLH) is a rare, hereditary, progressive, renal phosphate-wasting disorder characterized by a pathological increase in FGF23 concentration and activity. Due to its rarity, diagnosis may be delayed, which
Externí odkaz:
https://doaj.org/article/388123ab12ae45a9a9fad4c55b77739a
Autor:
Signe Sparre Beck-Nielsen, Henrik Hasle, Akmal Safwat, Kestutis Valancius, Bente Langdahl, Ebbe Stender Hansen
Publikováno v:
Bone Reports, Vol 18, Iss , Pp 101687- (2023)
A giant cell tumour of bone presented in the os sacrum of a prepubertal girl. Surgery with reconstruction was performed, but total resection was impossible. Zoledronate failed to avoid tumour regrowth, and treatment was changed to denosumab, despite
Externí odkaz:
https://doaj.org/article/ca1a40a5baf04e55bea655437e9fb4f6
Autor:
Maria Luisa Brandi, Gema Ariceta, Signe Sparre Beck-Nielsen, Annemieke M. Boot, Karine Briot, Carmen de Lucas Collantes, Francesco Emma, Sandro Giannini, Dieter Haffner, Richard Keen, Elena Levtchenko, Outi Mӓkitie, Ola Nilsson, Dirk Schnabel, Liana Tripto-Shkolnik, M. Carola Zillikens, Jonathan Liu, Alina Tudor, M. Zulf Mughal
Publikováno v:
Therapeutic Advances in Chronic Disease, Vol 13 (2022)
Background: X-linked hypophosphataemia (XLH) is a rare, inherited, phosphate-wasting disorder that elevates fibroblast growth factor 23 (FGF23), causing renal phosphate-wasting and impaired active vitamin D (1,25(OH) 2 D) synthesis. Disease character
Externí odkaz:
https://doaj.org/article/d28bfcdf548745f180f84f7092e7c674
Autor:
Signe Sparre Beck-Nielsen, Zulf Mughal, Dieter Haffner, Ola Nilsson, Elena Levtchenko, Gema Ariceta, Carmen de Lucas Collantes, Dirk Schnabel, Ravi Jandhyala, Outi Mäkitie
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-25 (2019)
Abstract Background X-linked hypophosphatemia (XLH) is an inherited disease of phosphate metabolism in which inactivating mutations of the Phosphate Regulating Endopeptidase Homolog, X-Linked (PHEX) gene lead to local and systemic effects including i
Externí odkaz:
https://doaj.org/article/acfb5f3933a643098455d783b398c950
Autor:
Mathilde Egelund Christensen, Signe Sparre Beck-Nielsen, Christine Dalgård, Søs Dragsbæk Larsen, Sine Lykkedegn, Henriette Boye Kyhl, Steffen Husby, Henrik Thybo Christesen
Publikováno v:
PLoS ONE, Vol 13, Iss 6, p e0198724 (2018)
BACKGROUND AND AIM:Long standing vitamin D deficiency in children causes rickets with growth impairment. We investigated whether sub-ischial leg length (SLL) is shorter, and cephalo-caudal length:length (CCL:L) ratio and sitting height:height (SH:H)
Externí odkaz:
https://doaj.org/article/731281e336724e7d8b826b3d6bc36153
Autor:
Sine Lykkedegn, Grith Lykke Sorensen, Signe Sparre Beck-Nielsen, Bartosz Pilecki, Lars Duelund, Niels Marcussen, Henrik Thybo Christesen
Publikováno v:
PLoS ONE, Vol 11, Iss 8, p e0155203 (2016)
Animal studies suggest a role of vitamin D in fetal lung development although not studied in preterm animals. We tested the hypothesis that vitamin D depletion aggravates respiratory insufficiency in preterm rat offspring. Furthermore, the effects of
Externí odkaz:
https://doaj.org/article/05a07186432e4d15b99891b6df866544
Publikováno v:
Hansen, S, Shanbhogue, V V, Jørgensen, N R & Beck-Nielsen, S S 2019, ' Elevated Bone Remodeling Markers of CTX and P1NP in Addition to Sclerostin in Patients with X-linked Hypophosphatemia : A Cross-Sectional Controlled Study ', Calcified Tissue International, vol. 104, no. 6, pp. 591-598 . https://doi.org/10.1007/s00223-019-00526-z
Aspects of bone remodeling have only been scarcely studied in X-linked hypophosphatemia (XLH). In this cross-sectional controlled study, we assessed biochemical indices of bone remodeling and sclerostin in 27 adult patients (median age 47 [range 24-7
Autor:
Marie Louise M Binderup, Maja Smerdel, Line Borgwadt, Signe Sparre Beck Nielsen, Mia Gebauer Madsen, Hans Ulrik Møller, Jens Folke Kiilgaard, Lennart Friis-Hansen, Vibeke Harbud, Søren Cortnum, Hanne Owen, Steen Gimsing, Henning Anker Friis Juhl, Sune Munthe, Marianne Geilswijk, Åse Krogh Rasmussen, Ulla Møldrup, Ole Graumann, Frede Donskov, Henning Grønbæk, Brian Stausbøl-Grøn, Ove Schaffalitzky de Muckadell, Ulrich Knigge, Gitte Dam, Karin AW. Wadt, Lars Bøgeskov, Per Bagi, Lars Lund, Kirstine Stochholm, Lilian Bomme Ousager, Lone Sunde
Publikováno v:
Louise M Binderup, M, Smerdel, M, Borgwadt, L, Beck Nielsen, S S, Madsen, M G, Møller, H U, Kiilgaard, J F, Friis-Hansen, L, Harbud, V, Cortnum, S, Owen, H, Gimsing, S, Friis Juhl, H A, Munthe, S, Geilswijk, M, Rasmussen, Å K, Møldrup, U, Graumann, O, Donskov, F, Grønbæk, H, Stausbøl-Grøn, B, Schaffalitzky de Muckadell, O, Knigge, U, Dam, G, Wadt, K AW, Bøgeskov, L, Bagi, P, Lund, L, Stochholm, K, Ousager, L B & Sunde, L 2022, ' von Hippel-Lindau disease : Updated guideline for diagnosis and surveillance ', European Journal of Medical Genetics, vol. 65, no. 8, 104538 . https://doi.org/10.1016/j.ejmg.2022.104538
Louise M Binderup, M, Smerdel, M, Borgwadt, L, Beck Nielsen, S S, Madsen, M G, Møller, H U, Kiilgaard, J F, Friis-Hansen, L, Harbud, V, Cortnum, S, Owen, H, Gimsing, S, Friis Juhl, H A, Munthe, S, Geilswijk, M, Rasmussen, Å K, Møldrup, U, Graumann, O, Donskov, F, Grønbæk, H, Stausbøl-Grøn, B, Schaffalitzky de Muckadell, O, Knigge, U, Dam, G, Wadt, K A, Bøgeskov, L, Bagi, P, Lund, L, Stochholm, K, Ousager, L B & Sunde, L 2022, ' von Hippel-Lindau disease : Updated guideline for diagnosis and surveillance ', European Journal of Medical Genetics, vol. 65, no. 8, pp. 104538 . https://doi.org/10.1016/j.ejmg.2022.104538
Louise M Binderup, M, Smerdel, M, Borgwadt, L, Beck Nielsen, S S, Madsen, M G, Møller, H U, Kiilgaard, J F, Friis-Hansen, L, Harbud, V, Cortnum, S, Owen, H, Gimsing, S, Friis Juhl, H A, Munthe, S, Geilswijk, M, Rasmussen, Å K, Møldrup, U, Graumann, O, Donskov, F, Grønbæk, H, Stausbøl-Grøn, B, Schaffalitzky de Muckadell, O, Knigge, U, Dam, G, Wadt, K A, Bøgeskov, L, Bagi, P, Lund, L, Stochholm, K, Ousager, L B & Sunde, L 2022, ' von Hippel-Lindau disease : Updated guideline for diagnosis and surveillance ', European Journal of Medical Genetics, vol. 65, no. 8, pp. 104538 . https://doi.org/10.1016/j.ejmg.2022.104538
von Hippel Lindau disease (vHL) is caused by a hereditary predisposition to multiple neoplasms, especially hemangioblastomas in the retina and CNS, renal cell carcinomas (RCC), pheochromocytomas, neuroendocrine pancreatic tumours (PNET) and endolymph
Publikováno v:
Gjørup, H, Beck-Nielsen, S S, Hald, J D & Haubek, D 2021, ' Oral health-related quality of life in X-linked hypophosphataemia and osteogenesis imperfecta ', Journal of Oral Rehabilitation, vol. 48, no. 2, pp. 160-168 . https://doi.org/10.1111/joor.13114
Journal of Oral Rehabilitation
Journal of Oral Rehabilitation
X‐linked hypophosphataemia (XLH) and osteogenesis imperfecta (OI) are rare congenital disorders characterised by skeletal dysplasia. The two disorders may include dental anomalies potentially affecting individual well‐being. The aims of study wer
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73715e609cb9781dfb21ae201e056890
https://pure.au.dk/ws/files/274415399/J_of_Oral_Rehabilitation_2020_Gj_rup_Oral_health_u2010related_quality_of_life_in_X_u2010linked_hypophosphataemia_and.pdf
https://pure.au.dk/ws/files/274415399/J_of_Oral_Rehabilitation_2020_Gj_rup_Oral_health_u2010related_quality_of_life_in_X_u2010linked_hypophosphataemia_and.pdf