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10.2147/TACG.S125962 http://scihub22266oqcxt.onion/10.2147/TACG.S125962 C5593394!5593394!28919799     free     free     free Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Appl+Clin+Genet 2017 ; 10 (ä): 57-66 Nephropedia Template TP {{tp|p=28919799|t=2017. Maple syrup urine disease: mechanisms and management |pdf=|usr=}}{{28919799}} gab.com Text Maple syrup urine disease: mechanisms and management JO: Appl Clin Genet http://www.kidney.de/pget.php?&tw=1&pmid=28919799 #FOAvip Maple syrup urine disease (MSUD) is an inborn error of metabolism caused by defects in the branched-chain ?-ketoacid dehydrogenase complex, which results in elevations of the branched-chain amino acids (BCAAs) in plasma, ?-ketoacids in urine, and production of the pathognomonic disease marker, alloisoleucine. The disorder varies in severity and the clinical spectrum is quite broad with five recognized clinical variants that have no known association with genotype. The classic presentation occurs in the neonatal period with developmental delay, failure to thrive, feeding difficulties, and maple syrup odor in the cerumen and urine, and can lead to irreversible neurological complications, including stereotypical movements, metabolic decompensation, and death if left untreated. Treatment consists of dietary restriction of BCAAs and close metabolic monitoring. Clinical outcomes are generally good in patients where treatment is initiated early. Newborn screening for MSUD is now commonplace in the United States and is included on the Recommended Uniform Screening Panel (RUSP). We review this disorder including its presentation, screening and clinical diagnosis, treatment, and other relevant aspects pertaining to the care of patients. Twit Text FOAVip Maple syrup urine disease: mechanisms and management ????Appl Clin Genet http://www.kidney.de/pget.php?&tw=1&pmid=28919799 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=28919799 #FOAvip English Wikipedia <ref>{{Cite pmid|28919799}}</ref> Maple syrup urine disease: mechanisms and management #MMPMID28919799 Blackburn PR; Gass JM; Vairo FPe; Farnham KM; Atwal HK; Macklin S; Klee EW; Atwal PS Appl Clin Genet 2017[]; 10 (ä): 57-66 PMID28919799show ga Maple syrup urine disease (MSUD) is an inborn error of metabolism caused by defects in the branched-chain ?-ketoacid dehydrogenase complex, which results in elevations of the branched-chain amino acids (BCAAs) in plasma, ?-ketoacids in urine, and production of the pathognomonic disease marker, alloisoleucine. The disorder varies in severity and the clinical spectrum is quite broad with five recognized clinical variants that have no known association with genotype. The classic presentation occurs in the neonatal period with developmental delay, failure to thrive, feeding difficulties, and maple syrup odor in the cerumen and urine, and can lead to irreversible neurological complications, including stereotypical movements, metabolic decompensation, and death if left untreated. Treatment consists of dietary restriction of BCAAs and close metabolic monitoring. Clinical outcomes are generally good in patients where treatment is initiated early. Newborn screening for MSUD is now commonplace in the United States and is included on the Recommended Uniform Screening Panel (RUSP). We review this disorder including its presentation, screening and clinical diagnosis, treatment, and other relevant aspects pertaining to the care of patients. äMaple syrup urine disease: mechanisms and management (epmc).pdf DeepDyve Pubget Overpricing