Search Results - "Franken, Anton A"
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Does Growth Hormone Replacement Therapy Reduce Mortality in Adults with Growth Hormone Deficiency? Data from the Dutch National Registry of Growth Hormone Treatment in Adults
Published in The journal of clinical endocrinology and metabolism (01-10-2011)“…Context: Adults with GH deficiency (GHD) have a decreased life expectancy. The effect of GH treatment on mortality remains to be established. Objective: This…”
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Fatigue in adults with Osteogenesis Imperfecta
Published in BMC musculoskeletal disorders (03-01-2020)“…Osteogenesis Imperfecta (OI) is characterized by bone fragility, and features such as blue sclerae, dentinogenesis imperfecta, hearing loss, ligamentous laxity…”
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Bleeding and bruising in Osteogenesis Imperfecta: International Society on Thrombosis and Haemostasis bleeding assessment tool and haemostasis laboratory assessment in 22 individuals
Published in British journal of haematology (01-11-2019)“…Summary Osteogenesis imperfecta (OI) is characterized by susceptibility to bone fractures. Other symptoms, such as easy bruising and bleeding complications…”
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Effect of long-term GH replacement therapy on cardiovascular outcomes in GH-deficient patients previously treated for acromegaly: a sub-analysis from the Dutch National Registry of Growth Hormone Treatment in Adults
Published in European journal of endocrinology (01-12-2014)“…ObjectiveThe effect of GH deficiency (GHD) on the metabolic profile of acromegaly patients is unclear in patients previously treated for acromegaly, as are the…”
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Effect of long-term GH replacement therapy on cardiovascular outcomes in isolated GH deficiency compared with multiple pituitary hormone deficiencies: a sub-analysis from the Dutch National Registry of Growth Hormone Treatment in Adults
Published in European journal of endocrinology (01-08-2014)“…ObjectiveIsolated GH deficiency (IGHD) could provide a model to investigate the influence of GH deficiency per se and the effect of GH replacement therapy…”
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Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2
Published in American journal of human genetics (05-11-2020)“…Osteogenesis imperfecta (OI) is characterized primarily by susceptibility to fractures with or without bone deformation. OI is genetically heterogeneous: over…”
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A Baseline Measurement of Quality of Life in 322 Adults With Osteogenesis Imperfecta
Published in JBMR plus (01-12-2020)“…ABSTRACT Osteogenesis imperfecta (OI) is characterized by bone fragility and secondary features such as blue sclerae, dentinogenesis imperfecta, hearing loss,…”
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PLS3 Mutations in X-Linked Osteoporosis with Fractures
Published in The New England journal of medicine (17-10-2013)“…The authors report data from five families with pathogenic variants in the gene for plastin 3, PLS3. Findings in these families and in zebrafish indicate that…”
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Identification of two distinct mutations at the same nucleotide position, concomitantly with a novel polymorphism in the vasopressin-neurophysin II gene (AVP-NP II) in two dutch families with familial neurohypophyseal diabetes insipidus
Published in Clinical chemistry (Baltimore, Md.) (01-10-2000)Get full text
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Adults with osteogenesis imperfecta: Clinical characteristics of 151 patients with a focus on bisphosphonate use and bone density measurements
Published in Bone Reports (01-06-2018)“…An expert center for adults with Osteogenesis Imperfecta (OI) has been founded at the Isala Hospital in Zwolle, the Netherlands to achieve optimal care for…”
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A male with limited movement in the forearm
Published in Nederlands tijdschrift voor geneeskunde (2014)“…A 33-year-old male with a history of over 50 fractures visited our outpatient clinic for adults with osteogenesis imperfecta. Rotation of his elbow joint was…”
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Familial neurohypophysial diabetes insipidus in a large dutch kindred : Effect of the onset of diabetes on growth in children and cell biological defects of the mutant vasopressin prohormone
Published in The journal of clinical endocrinology and metabolism (01-07-2001)“…Familial neurohypophysial diabetes insipidus (FNDI) is an autosomal dominant trait in which expression of a mutant vasopressin prohormone reduces vasopressin…”
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Familial Neurohypophysial Diabetes Insipidus in a Large Dutch Kindred: Effect of the Onset of Diabetes on Growth in Children and Cell Biological Defects of the Mutant Vasopressin Prohormone 1
Published in The journal of clinical endocrinology and metabolism (01-07-2001)Get full text
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Familial Neurohypophysial Diabetes Insipidus in a Large Dutch Kindred: Effect of the Onset of Diabetes on Growth in Children and Cell Biological Defects of the Mutant Vasopressin Prohormone1
Published in The journal of clinical endocrinology and metabolism (01-07-2001)“…Familial neurohypophysial diabetes insipidus (FNDI) is an autosomal dominant trait in which expression of a mutant vasopressin prohormone reduces vasopressin…”
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Bisphosphonate-related osteonecrosis of the jaw
Published in Nederlands tijdschrift voor geneeskunde (2011)“…Osteonecrosis of the jaw in association with long-term use of bisphosphonates (BRONJ) is a relatively rare but serious side effect that is difficult to treat…”
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