Search Results - "Beck‐Nielsen, Signe Sparre"
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Oral health‐related quality of life in X‐linked hypophosphataemia and osteogenesis imperfecta
Published in Journal of oral rehabilitation (01-02-2021)“…X‐linked hypophosphataemia (XLH) and osteogenesis imperfecta (OI) are rare congenital disorders characterised by skeletal dysplasia. The two disorders may…”
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2
Prevalence of maternal chronic diseases during pregnancy - a nationwide population based study from 1989 to 2013
Published in Acta obstetricia et gynecologica Scandinavica (01-11-2016)“…There is substantial evidence of a negative impact of maternal chronic disease during pregnancy on reproductive outcomes. Knowledge of the prevalence of…”
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The impact of vitamin D on fetal and neonatal lung maturation. A systematic review
Published in American journal of physiology. Lung cellular and molecular physiology (01-04-2015)“…Respiratory distress syndrome (RDS) and bronchopulmonary dysplasia (BPD) are major complications to preterm birth. Hypovitaminosis D is prevalent in pregnancy…”
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4
FGF23 and its role in X-linked hypophosphatemia-related morbidity
Published in Orphanet journal of rare diseases (26-02-2019)“…X-linked hypophosphatemia (XLH) is an inherited disease of phosphate metabolism in which inactivating mutations of the Phosphate Regulating Endopeptidase…”
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Incidence and prevalence of nutritional and hereditary rickets in southern Denmark
Published in European journal of endocrinology (01-03-2009)“…ObjectiveTo estimate the incidence of nutritional rickets and the incidence and prevalence of hereditary rickets.DesignPopulation-based retrospective cohort…”
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Bone Geometry, Volumetric Density, Microarchitecture, and Estimated Bone Strength Assessed by HR‐pQCT in Adult Patients With Hypophosphatemic Rickets
Published in Journal of bone and mineral research (01-01-2015)“…ABSTRACT Hypophosphatemic rickets (HR) is characterized by a generalized mineralization defect. Although densitometric studies have found the patients to have…”
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von Hippel-Lindau disease: Updated guideline for diagnosis and surveillance
Published in European journal of medical genetics (01-08-2022)“…von Hippel Lindau disease (vHL) is caused by a hereditary predisposition to multiple neoplasms, especially hemangioblastomas in the retina and CNS, renal cell…”
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Vitamin D Depletion in Pregnancy Decreases Survival Time, Oxygen Saturation, Lung Weight and Body Weight in Preterm Rat Offspring
Published in PloS one (29-08-2016)“…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…”
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The International X-Linked Hypophosphatemia (XLH) Registry: first interim analysis of baseline demographic, genetic and clinical data
Published in Orphanet journal of rare diseases (27-09-2023)“…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 inverse association between cord 25-hydroxyvitamin D and leg length in boys up to three years. An Odense Child Cohort study
Published in PloS one (11-06-2018)“…Long standing vitamin D deficiency in children causes rickets with growth impairment. We investigated whether sub-ischial leg length (SLL) is shorter, and…”
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Giant cell tumour of bone in os sacrum of a prepubertal girl – Surgical and medical treatment with zoledronate and denosumab
Published in Bone Reports (01-06-2023)“…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…”
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Administering different levels of parenteral phosphate and amino acids did not influence growth in extremely preterm infants
Published in Acta Paediatrica (01-09-2015)“…Aim When a new high amino acid parenteral nutrition (PN) solution was introduced to our hospital, a design error led to decreased phosphate levels. This…”
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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
Published in Therapeutic advances in chronic disease (01-01-2024)“…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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Post-authorisation safety study of burosumab use in paediatric, adolescent and adult patients with X-linked hypophosphataemia: rationale and description
Published in Therapeutic advances in chronic disease (2022)“…Background: X-linked hypophosphataemia (XLH) is a rare, inherited, phosphate-wasting disorder that elevates fibroblast growth factor 23 (FGF23), causing renal…”
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Craniofacial morphology in patients with hypophosphatemic rickets: A cephalometric study focusing on differences between bone of cartilaginous and intramembranous origin
Published in American journal of medical genetics. Part A (01-11-2011)“…Hypophosphatemic rickets (HR) are diseases characterized by deficient mineralization of bone due to abnormal renal wasting of phosphate. Deformation of bony…”
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Elevated Bone Remodeling Markers of CTX and P1NP in Addition to Sclerostin in Patients with X-linked Hypophosphatemia: A Cross-Sectional Controlled Study
Published in Calcified tissue international (01-06-2019)“…Aspects of bone remodeling have only been scarcely studied in X-linked hypophosphatemia (XLH). In this cross-sectional controlled study, we assessed…”
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Craniofacial and dental characteristics of patients with vitamin-D-dependent rickets type 1A compared to controls and patients with X-linked hypophosphatemia
Published in Clinical oral investigations (01-03-2018)“…ᅟObjectives Vitamin-D-dependent rickets type 1A (VDDR1A) is a rare inherited disease caused by defective activation of vitamin D. The aim of the study was to…”
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Impact of Conventional Medical Therapy on Bone Mineral Density and Bone Turnover in Adult Patients with X-Linked Hypophosphatemia: A 6-Year Prospective Cohort Study
Published in Calcified tissue international (01-03-2018)“…X-linked hypophosphatemia (XLH) is a rare, inheritable disorder manifesting as rickets in children and osteomalacia in adults. While conventional medical…”
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Rickets in Denmark
Published in Danish medical journal (01-02-2012)“…Rickets is a heterogeneous group of diseases of the growing child caused by defect mineralization of bone. Nutritional rickets is caused by deficiency of…”
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Vitamin D supplementation, cord 25-hydroxyvitamin D and birth weight: Findings from the Odense Child Cohort
Published in Clinical nutrition (Edinburgh, Scotland) (01-12-2017)“…Summary Background & aims Hypovitaminosis D, defined as serum 25-hydroxyvitamin D (s-25(OH)D) <50 nmol/L, is frequent in pregnant women and neonates worldwide…”
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