Search Results - "Treurniet, Sanne"
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Prevalence and Hospital Admissions in Patients With Osteogenesis Imperfecta in The Netherlands: A Nationwide Registry Study
Published in Frontiers in endocrinology (Lausanne) (25-04-2022)“…Osteogenesis Imperfecta (OI) is a complex disease caused by genetic alterations in production of collagen type I, and collagen-related proteins. Bone fragility…”
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2
From Genetics to Clinical Implications: A Study of 675 Dutch Osteogenesis Imperfecta Patients
Published in Biomolecules (Basel, Switzerland) (02-02-2023)“…Osteogenesis imperfecta (OI) is a heritable connective tissue disorder that causes bone fragility due to pathogenic variants in genes responsible for the…”
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A Clinical Perspective on Advanced Developments in Bone Biopsy Assessment in Rare Bone Disorders
Published in Frontiers in endocrinology (Lausanne) (23-06-2020)“…Bone biopsies have been obtained for many centuries and are one of the oldest known medical procedures in history. Despite the introduction of new noninvasive…”
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4
Beyond toothache: A new perspective on Eagle syndrome
Published in Bone Reports (01-10-2020)Get full text
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5
When Limb Surgery Has Become the Only Life-Saving Therapy in FOP: A Case Report and Systematic Review of the Literature
Published in Frontiers in endocrinology (Lausanne) (21-08-2020)“…Fibrodysplasia ossificans progressiva (FOP) is a rare disease in which heterotopic ossification (HO) is formed in muscles, tendons and ligaments. Traumatic…”
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The first family with adult osteogenesis imperfecta caused by a novel homozygous mutation in CREB3L1
Published in Molecular genetics & genomic medicine (01-08-2019)“…Background Osteogenesis imperfecta (OI) is a clinically heterogeneous disease characterized by extreme skeletal fragility. It is caused by mutations in genes…”
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Deterioration of pulmonary function: An early complication in Fibrodysplasia Ossificans Progressiva
Published in Bone Reports (01-06-2021)“…Fibrodysplasia Ossificans Progressiva (FOP) is a genetic disease characterized by the formation of heterotopic ossification (HO) in connective tissues. HO…”
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8
Diagnostic Value of Magnetic Resonance Imaging in Fibrodysplasia Ossificans Progressiva
Published in JBMR plus (01-06-2020)“…ABSTRACT Using [18F] Sodium Fuoride (NaF) Positron Emission Tomography (PET) it is not only possible to identify the ossifying potency of a flare‐up, but also…”
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Ocular characteristics and complications in patients with osteogenesis imperfecta: a systematic review
Published in Acta ophthalmologica (Oxford, England) (01-02-2022)“…Purpose Osteogenesis imperfecta (OI) is a rare inherited heterogeneous connective tissue disorder characterized by bone fragility, low bone mineral density,…”
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10
Polarization-sensitive optical coherence tomography and scleral collagen fiber orientation in osteogenesis imperfecta
Published in Experimental eye research (01-10-2024)“…Osteogenesis imperfecta (OI), a rare genetic connective tissue disorder, primarily arises from pathogenic variants affecting the production or structure of…”
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11
Bone Microarchitecture and Strength Changes During Teriparatide and Zoledronic Acid Treatment in a Patient with Pregnancy and Lactation-Associated Osteoporosis with Multiple Vertebral Fractures
Published in Calcified tissue international (01-05-2023)“…Pregnancy- and lactation-associated osteoporosis (PLO) is a rare form of osteoporosis, of which the pathogenesis and best treatment options are unclear. In…”
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Eagle syndrome: tissue characteristics and structure of the styloid process
Published in JBMR plus (01-10-2024)“…Eagle syndrome is a bone disease where elongation of the styloid process leads to throat and neck pain, and in severe cases neurovascular symptoms such as…”
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Collaboration Around Rare Bone Diseases Leads to the Unique Organizational Incentive of the Amsterdam Bone Center
Published in Frontiers in endocrinology (Lausanne) (11-08-2020)“…In the field of rare bone diseases in particular, a broad care team of specialists embedded in multidisciplinary clinical and research environment is essential…”
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