Search Results - "Koeppl, Christian"
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Cystinosis-associated metabolic bone disease across ages and CKD stages 1-5D/T
Published in The journal of clinical endocrinology and metabolism (25-07-2024)“…The pathophysiology of cystinosis-associated metabolic bone disease is complex. We hypothesized a disturbed interaction between osteoblasts and osteoclasts…”
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Neuromuscular conditions and the impact of cystine‐depleting therapy in infantile nephropathic cystinosis: A cross‐sectional analysis of 55 patients
Published in Journal of inherited metabolic disease (01-03-2022)“…Infantile nephropathic cystinosis (INC) is a rare lysosomal storage disease caused by biallelic mutations in the cystinosin gene, leading to cystine…”
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Management of bone disease in cystinosis: Statement from an international conference
Published in Journal of inherited metabolic disease (01-09-2019)“…Cystinosis is an autosomal recessive storage disease due to impaired transport of cystine out of lysosomes. Since the accumulation of intracellular cystine…”
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On the shedding of impaled droplets: The role of transient intervening layers
Published in Scientific reports (08-01-2016)“…Maintaining the non-wetting property of textured hydrophobic surfaces is directly related to the preservation of an intervening fluid layer (gaseous or…”
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