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10.1016/j.bbalip.2013.11.004 http://scihub22266oqcxt.onion/10.1016/j.bbalip.2013.11.004 24239767!ä!24239767 Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 263.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Warning: imagejpeg(C:\Inetpub\vhosts\kidney.de\httpdocs\phplern\24239767.jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117       Biochim+Biophys+Acta 2014 ; 1841 (5): 811-25 Nephropedia Template TP {{tp|p=24239767|t=2014. Gaucher disease and Fabry disease: new markers and insights in pathophysiology for two distinct glycosphingolipidoses |pdf=|usr=}}{{24239767}} gab.com Text Gaucher disease and Fabry disease: new markers and insights in pathophysiology for two distinct glycosphingolipidoses JO: Biochim Biophys Acta http://www.kidney.de/pget.php?&tw=1&pmid=24239767 #FOAvip Gaucher disease (GD) and Fabry disease (FD) are two relatively common inherited glycosphingolipidoses caused by deficiencies in the lysosomal glycosidases glucocerebrosidase and alpha-galactosidase A, respectively. For both diseases enzyme supplementation is presently used as therapy. Cells and tissues of GD and FD patients are uniformly deficient in enzyme activity, but the two diseases markedly differ in cell types showing lysosomal accumulation of the glycosphingolipid substrates glucosylceramide and globotriaosylceramide, respectively. The clinical manifestation of Gaucher disease and Fabry disease is consequently entirely different and the response to enzyme therapy is only impressive in the case of GD patients. This review compares both glycosphingolipid storage disorders with respect to similarities and differences. Presented is an update on insights regarding pathophysiological mechanisms as well as recently available biochemical markers and diagnostic tools for both disorders. Special attention is paid to sphingoid bases of the primary storage lipids in both diseases. The value of elevated glucosylsphingosine in Gaucher disease and globotriaosylsphingosine in Fabry disease for diagnosis and monitoring of disease is discussed as well as the possible contribution of the sphingoid bases to (patho)physiology. This article is part of a Special Issue entitled New Frontiers in Sphingolipid Biology. Twit Text FOAVip Gaucher disease and Fabry disease: new markers and insights in pathophysiology for two distinct glycosphingolipidoses ????Biochim Biophys Acta http://www.kidney.de/pget.php?&tw=1&pmid=24239767 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=24239767 #FOAvip English Wikipedia <ref>{{Cite pmid|24239767}}</ref> Gaucher disease and Fabry disease: new markers and insights in pathophysiology for two distinct glycosphingolipidoses #MMPMID24239767 Ferraz MJ; Kallemeijn WW; Mirzaian M; Herrera Moro D; Marques A; Wisse P; Boot RG; Willems LI; Overkleeft HS; Aerts JM Biochim Biophys Acta 2014[May]; 1841 (5): 811-25 PMID24239767show ga Gaucher disease (GD) and Fabry disease (FD) are two relatively common inherited glycosphingolipidoses caused by deficiencies in the lysosomal glycosidases glucocerebrosidase and alpha-galactosidase A, respectively. For both diseases enzyme supplementation is presently used as therapy. Cells and tissues of GD and FD patients are uniformly deficient in enzyme activity, but the two diseases markedly differ in cell types showing lysosomal accumulation of the glycosphingolipid substrates glucosylceramide and globotriaosylceramide, respectively. The clinical manifestation of Gaucher disease and Fabry disease is consequently entirely different and the response to enzyme therapy is only impressive in the case of GD patients. This review compares both glycosphingolipid storage disorders with respect to similarities and differences. Presented is an update on insights regarding pathophysiological mechanisms as well as recently available biochemical markers and diagnostic tools for both disorders. Special attention is paid to sphingoid bases of the primary storage lipids in both diseases. The value of elevated glucosylsphingosine in Gaucher disease and globotriaosylsphingosine in Fabry disease for diagnosis and monitoring of disease is discussed as well as the possible contribution of the sphingoid bases to (patho)physiology. This article is part of a Special Issue entitled New Frontiers in Sphingolipid Biology. |Biomarkers/*metabolism[MESH] |Fabry Disease/*diagnosis/*physiopathology[MESH] |Gaucher Disease/*diagnosis/*physiopathology[MESH] |Glycosphingolipids/*metabolism[MESH]Gaucher disease and Fabry disease: new markers and insights in pathoph(epmc).pdf DeepDyve Pubget Overpricing