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10.1007/8904_2016_25 http://scihub22266oqcxt.onion/10.1007/8904_2016_25 C5585106!5585106 !27928776     free     free     free Warning: file_get_contents(https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=27928776 &cmd=llinks): Failed to open stream: HTTP request failed! 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The Risk of Fatty Acid Oxidation Disorders and Organic Acidemias in Children with Normal Newborn Screening |pdf=|usr=}}{{27928776 }} gab.com Text The Risk of Fatty Acid Oxidation Disorders and Organic Acidemias in Children with Normal Newborn Screening JO: JIMD Rep http://www.kidney.de/pget.php?&tw=1&pmid=27928776 #FOAvip New Zealand has undertaken expanded newborn screening since 2006. During that period there have been no reported cases of fatty acid oxidation disorders or organic acidemias that have been diagnosed clinically that the screening programme missed. However there may have been patients that presented clinically that were not diagnosed correctly or notified.In order to investigate the false-negative screening rate a case-control study was undertaken whereby the clinical coding data and relevant medical records were reviewed for 150 controls and 525 cases. The cases had normal newborn screening but with key analytes and/or ratios just below the notification level for individual disorders and thus in theory were most at risk of having metabolic disease.Two cases had medical histories suggestive of metabolic disease and thus could represent a false-negative screen. One of these had marginally elevated octanoyl carnitine levels and thus possible medium-chain acyl Co-A dehydrogenase deficiency (MCADD) while the other had elevated isovaleryl carnitine and thus may have been a case of isovaleric acidemia (IVA). However, subsequent molecular analysis revealed that the diagnosis of MCADD and IVA was unlikely.Despite relatively high cut-offs the New Zealand Newborn Metabolic Screening Programme does not appear to have missed any confirmed cases of fatty acid oxidation disorders and organic acidemias in its first 8 years of expanded newborn screening. This would suggest a similar low false-negative screening rate in centres with comparable screening protocols and would indicate that the risk of fatty acid oxidation disorders and classical organic acidemias in children who had normal newborn screening is low. Twit Text FOAVip The Risk of Fatty Acid Oxidation Disorders and Organic Acidemias in Children with Normal Newborn Screening ????JIMD Rep http://www.kidney.de/pget.php?&tw=1&pmid=27928776 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=27928776 #FOAvip English Wikipedia <ref>{{Cite pmid|27928776 }}</ref> The Risk of Fatty Acid Oxidation Disorders and Organic Acidemias in Children with Normal Newborn Screening #MMPMID27928776 Wilson C ; Knoll D ; de Hora M ; Kyle C ; Glamuzina E ; Webster D JIMD Rep 2017[]; 35 (ä): 53-58 PMID27928776 show ga New Zealand has undertaken expanded newborn screening since 2006. During that period there have been no reported cases of fatty acid oxidation disorders or organic acidemias that have been diagnosed clinically that the screening programme missed. However there may have been patients that presented clinically that were not diagnosed correctly or notified.In order to investigate the false-negative screening rate a case-control study was undertaken whereby the clinical coding data and relevant medical records were reviewed for 150 controls and 525 cases. The cases had normal newborn screening but with key analytes and/or ratios just below the notification level for individual disorders and thus in theory were most at risk of having metabolic disease.Two cases had medical histories suggestive of metabolic disease and thus could represent a false-negative screen. One of these had marginally elevated octanoyl carnitine levels and thus possible medium-chain acyl Co-A dehydrogenase deficiency (MCADD) while the other had elevated isovaleryl carnitine and thus may have been a case of isovaleric acidemia (IVA). However, subsequent molecular analysis revealed that the diagnosis of MCADD and IVA was unlikely.Despite relatively high cut-offs the New Zealand Newborn Metabolic Screening Programme does not appear to have missed any confirmed cases of fatty acid oxidation disorders and organic acidemias in its first 8 years of expanded newborn screening. This would suggest a similar low false-negative screening rate in centres with comparable screening protocols and would indicate that the risk of fatty acid oxidation disorders and classical organic acidemias in children who had normal newborn screening is low. äThe Risk of Fatty Acid Oxidation Disorders and Organic Acidemias in Ch(epmc).pdf DeepDyve Pubget Overpricing