Výsledky vyhledávání - "Signe Beck-Nielsen"

Akademický článek

The international X-linked hypophosphataemia (XLH) registry (NCT03193476): rationale for and description of an international, observational study

Autor: Raja Padidela, Ola Nilsson, Outi Makitie, Signe Beck-Nielsen, Gema Ariceta, Dirk Schnabel, Maria Luisa Brandi, Annemieke Boot, Elena Levtchenko, Michael Smyth, Ravi Jandhyala, Zulf Mughal

Publikováno v: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-11 (2020)

Abstract Background X-linked hypophosphataemia (XLH) is a rare, hereditary, progressive and lifelong phosphate wasting disorder characterised by pathological elevations in fibroblast growth factor (FGF) 23 concentration and activity; XLH has an incid

Externí odkaz: https://doaj.org/article/d1eaabf96b4c4fabb33c9762c45a5fee

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Heart rate and blood pressure, but not pulse wave velocity, are higher among adults with hereditary hypophosphatemia compared to healthy controls: a cross-sectional study

Autor: Rasmus Espersen, Signe Beck-Nielsen, Lars Rejnmark

Publikováno v: Endocrine Abstracts.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b463bf7398e29ff34d33b6001de9705f
https://doi.org/10.1530/endoabs.90.p33

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Pycnodysostosis in children and adults

Autor: Jannie Dahl Hald, Signe Beck-Nielsen, Pernille Axel Gregersen, Hans Gjørup, Bente Langdahl

Publikováno v: Hald, J D, Beck-Nielsen, S, Gregersen, P A, Gjørup, H & Langdahl, B 2023, ' Pycnodysostosis in children and adults ', Bone, vol. 169, 116674 . https://doi.org/10.1016/j.bone.2023.116674

Pycnodysostosis (MIM #265800) is a subtype of osteopetrosis and is a rare skeletal dysplasia characterized by generalized progressing osteosclerosis. The prevalence is 1–5/1.000.000. Pycnodysostosis is caused by homozygosity or compound heterozygos

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4e2db663a0b2fc5ef59cfa35d2b1c5c
https://pure.au.dk/portal/da/publications/pycnodysostosis-in-children-and-adults(80ab3499-07fa-4df4-8b06-5218b759ec91).html

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CTSK, Pycnodysostosis

Autor: Jannie Dahl Hald, Signe Beck-Nielsen, Pernille Axel Gregersen, Hans Gjørup, Bente Langdahl

Publikováno v: SSRN Electronic Journal.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a45cb55d667d658026eac52959ddac22
https://doi.org/10.2139/ssrn.4240401

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[Vitamin D deficiency among children and adolescents living in Denmark]

Autor: Signe, Beck-Nielsen, Christian, Mølgaard

Publikováno v: Ugeskrift for laeger. 176(13)

Based on the available Danish studies, vitamin D insufficiency, defined as the concentration of serum 25 hydroxy vitamin D (25(OH)D)50 nmol/l, is primarily prevalent among teenagers, children from immigrant families, and this especially by the end of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::ac6b72a0bbb1a1265ebc39e46c4e8ad2
https://pubmed.ncbi.nlm.nih.gov/25349931

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Bone geometry, volumetric density, microarchitecture, and estimated bone strength assessed by HR-pQCT in adult patients with hypophosphatemic rickets

Autor: Vikram Vinod Shanbhogue, Stinus Hansen, Lars Folkestad, Kim Brixen, Signe Beck-Nielsen

Publikováno v: University of Southern Denmark
Shanbhogue, V V, Hansen, S, Folkestad, L, Brixen, K & Beck-Nielsen, S 2015, ' Bone Geometry, Volumetric Density, Microarchitecture and Estimated Bone Strength Assessed by HR-pQCT in Adult Patients with Hypophosphatemic Rickets ', Journal of Bone and Mineral Research, vol. 30, no. 1, pp. 176-183 . https://doi.org/10.1002/jbmr.2310

Hypophosphatemic rickets (HR) is characterized by a generalized mineralization defect. Although densitometric studies have found the patients to have an elevated bone mineral density (BMD), data on bone geometry and microstructure are scarce. The aim

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::5a57f2857a91ff396d7e448484438fa1
https://pubmed.ncbi.nlm.nih.gov/25042721

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Vitamin D-dependent rickets type 1A causes disproportioned short stature and increased risk of caesarean section

Autor: Signe Beck-Nielsen, Klaus Brusgaard, Kim Brixen, Jeppe Gram

Publikováno v: Beck-Nielsen, S, Brusgaard, K, Brixen, K & Gram, J 2013, ' Vitamin D-dependent rickets type 1A causes disproportioned short stature and increased risk of caesarean section ', 9th Joint Meeting of Paediatric Endocrinology, Milano, Italy, 19/09/2013-22/09/2013 .
University of Southern Denmark

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::d6a07935704095edfeb1cd155f900ac2
https://portal.findresearcher.sdu.dk/da/publications/46136ace-4ef9-44fc-ac54-e4272daf6f7a

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Spontaneous abortion is associated with low levels of 25-hydroxyvitamin D in early pregnancy: a prospective cohort study

Autor: Louise Bjørkholt Andersen, jan stener jørgensen, Tina Kold Jensen, Christine Dalgård, Torben Barington, Signe Beck-Nielsen, Steffen Husby, Bo Abrahamsen, Ronald Lamont, Henrik Thybo Christesen

Publikováno v: Andersen, L B, Jørgensen, J S, Jensen, T K, Dalgård, C, Barington, T, Beck-Nielsen, S, Husby, S, Abrahamsen, B, Lamont, R F & Christesen, H B T 2013, ' Spontaneous abortion is associated with low levels of 25-hydroxyvitamin D in early pregnancy: a prospective cohort study ', 22. Annual National Symposia in Neonatology, Koldingfjord, Denmark, 3-5/10 2013, Kolding, Denmark, 03/10/2013-05/10/2013 .
University of Southern Denmark

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::2d3e6e32e94fee58d6951201fe857757
https://portal.findresearcher.sdu.dk/da/publications/46186135-fb60-4495-b017-16410a98a12e

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