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10.1016/j.ymgmr.2017.12.005 http://scihub22266oqcxt.onion/10.1016/j.ymgmr.2017.12.005 C6047061!6047061!30023283     free     free     free Deprecated: Implicit conversion from float 209.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 209.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 209.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 209.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 209.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Mol+Genet+Metab+Rep 2018 ; 15 (ä): 11-4 Nephropedia Template TP {{tp|p=30023283|t=2018. Type 1 sialidosis presenting with ataxia, seizures and myoclonus with no visual involvement |pdf=|usr=}}{{30023283}} gab.com Text Type 1 sialidosis presenting with ataxia, seizures and myoclonus with no visual involvement JO: Mol Genet Metab Rep http://www.kidney.de/pget.php?&tw=1&pmid=30023283 #FOAvip Sialidosis is an autosomal recessive lysosomal storage disease caused by pathogenic variants in NEU1 which encodes lysosomal sialidase (neuraminidase 1). Lysosomal neuraminidase catalyzes the removal of terminal sialic acid molecules from glycolipids, glycoproteins and oligosaccharides. Sialidosis is classified into two types, based on phenotype and age of onset. Patients with the milder type 1 typically present late, usually in the second or third decade, with myoclonus, ataxia and visual defects. Type 2 is more severe and presents earlier with coarse facial features, developmental delay, hepatosplenomegaly and dysostosis multiplex. Presentation and severity of the disease are related to whether lysosomal sialidase is inactive or there is some residual activity. Diagnosis is suspected based on clinical features and increased urinary bound sialic acid excretion and confirmed by genetic testing showing pathogenic variants in NEU1. We report a patient with type 1 sialidosis who presented mainly with ataxia and both generalized and myoclonic seizures but no visual involvement. Whole exome sequencing of the proband detected compound heterozygous likely pathogenic variants (S182G and G227R) in NEU1. Twit Text FOAVip Type 1 sialidosis presenting with ataxia, seizures and myoclonus with no visual involvement ????Mol Genet Metab Rep http://www.kidney.de/pget.php?&tw=1&pmid=30023283 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=30023283 #FOAvip English Wikipedia <ref>{{Cite pmid|30023283}}</ref> Type 1 sialidosis presenting with ataxia, seizures and myoclonus with no visual involvement #MMPMID30023283 Mohammad AN; Bruno KA; Hines S; Atwal PS Mol Genet Metab Rep 2018[Jun]; 15 (ä): 11-4 PMID30023283show ga Sialidosis is an autosomal recessive lysosomal storage disease caused by pathogenic variants in NEU1 which encodes lysosomal sialidase (neuraminidase 1). Lysosomal neuraminidase catalyzes the removal of terminal sialic acid molecules from glycolipids, glycoproteins and oligosaccharides. Sialidosis is classified into two types, based on phenotype and age of onset. Patients with the milder type 1 typically present late, usually in the second or third decade, with myoclonus, ataxia and visual defects. Type 2 is more severe and presents earlier with coarse facial features, developmental delay, hepatosplenomegaly and dysostosis multiplex. Presentation and severity of the disease are related to whether lysosomal sialidase is inactive or there is some residual activity. Diagnosis is suspected based on clinical features and increased urinary bound sialic acid excretion and confirmed by genetic testing showing pathogenic variants in NEU1. We report a patient with type 1 sialidosis who presented mainly with ataxia and both generalized and myoclonic seizures but no visual involvement. Whole exome sequencing of the proband detected compound heterozygous likely pathogenic variants (S182G and G227R) in NEU1. äType 1 sialidosis presenting with ataxia, seizures and myoclonus with (epmc).pdf DeepDyve Pubget Overpricing