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10.1016/j.ymgmr.2017.10.006 http://scihub22266oqcxt.onion/10.1016/j.ymgmr.2017.10.006 C5681336!5681336 !29159075     free     free     free Warning: file_get_contents(https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=29159075 &cmd=llinks): Failed to open stream: HTTP request failed! 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Enzyme replacement therapy in perinatal hypophosphatasia: Case report of a negative outcome and lessons for clinical practice |pdf=|usr=}}{{29159075 }} gab.com Text Enzyme replacement therapy in perinatal hypophosphatasia: Case report of a negative outcome and lessons for clinical practice JO: Mol Genet Metab Rep http://www.kidney.de/pget.php?&tw=1&pmid=29159075 #FOAvip Enzyme replacement therapy (ERT) is a newly approved disease-modifying treatment for hypophosphatasia (HPP), a rare metabolic bone disorder. With an orphan drug and ultra-rare disease, sharing information about responders and non-responders is particularly important, as any one centre's familiarity with its use will be limited. Nearly all published data in infants and very young children with life-threatening HPP are from three small clinical trials that have reported generally positive outcomes. We describe in detail a patient with perinatal HPP for whom treatment with ERT was not successful. Lessons learned from this case can inform clinical decision-making and provide topics for the research agenda. We also discuss practical and ethical challenges related to treatment of an ultra-rare disease with an expensive new medication in a publicly funded healthcare system. Twit Text FOAVip Enzyme replacement therapy in perinatal hypophosphatasia: Case report of a negative outcome and lessons for clinical practice ????Mol Genet Metab Rep http://www.kidney.de/pget.php?&tw=1&pmid=29159075 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=29159075 #FOAvip English Wikipedia <ref>{{Cite pmid|29159075 }}</ref> Enzyme replacement therapy in perinatal hypophosphatasia: Case report of a negative outcome and lessons for clinical practice #MMPMID29159075 Costain G ; Moore AM ; Munroe L ; Williams A ; Zlotnik Shaul R ; Rockman-Greenberg C ; Offringa M ; Kannu P Mol Genet Metab Rep 2018[Mar]; 14 (ä): 22-26 PMID29159075 show ga Enzyme replacement therapy (ERT) is a newly approved disease-modifying treatment for hypophosphatasia (HPP), a rare metabolic bone disorder. With an orphan drug and ultra-rare disease, sharing information about responders and non-responders is particularly important, as any one centre's familiarity with its use will be limited. Nearly all published data in infants and very young children with life-threatening HPP are from three small clinical trials that have reported generally positive outcomes. We describe in detail a patient with perinatal HPP for whom treatment with ERT was not successful. Lessons learned from this case can inform clinical decision-making and provide topics for the research agenda. We also discuss practical and ethical challenges related to treatment of an ultra-rare disease with an expensive new medication in a publicly funded healthcare system. äEnzyme replacement therapy in perinatal hypophosphatasia: Case report (epmc).pdf DeepDyve Pubget Overpricing