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10.1155/2017/9543079 http://scihub22266oqcxt.onion/10.1155/2017/9543079 C5642869!5642869!29098097     free     free     free Warning: file_get_contents(https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=29098097&cmd=llinks): Failed to open stream: HTTP request failed! HTTP/1.1 429 Too Many Requests in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 215 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Case+Rep+Nephrol 2017 ; 2017 (ä): ä Nephropedia Template TP {{tp|p=29098097|t=2017. Early Renal Involvement in a Girl with Classic Fabry Disease |pdf=|usr=}}{{29098097}} gab.com Text Early Renal Involvement in a Girl with Classic Fabry Disease JO: Case Rep Nephrol http://www.kidney.de/pget.php?&tw=1&pmid=29098097 #FOAvip Fabry disease is an X-linked lysosomal storage disorder resulting from the deficiency or absence of the enzyme alpha galactosidase A; this defect leads to the systemic accumulation of globotriaosylceramide and its metabolites. Organic involvement in men is well known, but in women it is controversial, mainly due to the random X-chromosome inactivation in each of their cells (Lyon hypothesis). This would explain why women (heterozygotes) present a wide variability in the severity of their phenotype. The manifestations are multisystemic and begin in early childhood, reaching a severe compromise in adulthood. Typical acroparesthesia in hands and feet, gastrointestinal symptoms, angiokeratomas, dyshidrosis, hearing loss, arrhythmias, hypertrophic cardiomyopathy, cerebrovascular accidents, and renal failure can be observed. Nephropathy is one of the major complications of Fabry disease. Glomerular and vascular changes are present before progression to overt proteinuria and decreased glomerular filtration rate, even in pediatric patients. A case of incipient renal involvement in a girl with classic Fabry disease is reported. Twit Text FOAVip Early Renal Involvement in a Girl with Classic Fabry Disease ????Case Rep Nephrol http://www.kidney.de/pget.php?&tw=1&pmid=29098097 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=29098097 #FOAvip English Wikipedia <ref>{{Cite pmid|29098097}}</ref> Early Renal Involvement in a Girl with Classic Fabry Disease #MMPMID29098097 Perretta F; Antongiovanni N; Jaurretche S Case Rep Nephrol 2017[]; 2017 (ä): ä PMID29098097show ga Fabry disease is an X-linked lysosomal storage disorder resulting from the deficiency or absence of the enzyme alpha galactosidase A; this defect leads to the systemic accumulation of globotriaosylceramide and its metabolites. Organic involvement in men is well known, but in women it is controversial, mainly due to the random X-chromosome inactivation in each of their cells (Lyon hypothesis). This would explain why women (heterozygotes) present a wide variability in the severity of their phenotype. The manifestations are multisystemic and begin in early childhood, reaching a severe compromise in adulthood. Typical acroparesthesia in hands and feet, gastrointestinal symptoms, angiokeratomas, dyshidrosis, hearing loss, arrhythmias, hypertrophic cardiomyopathy, cerebrovascular accidents, and renal failure can be observed. Nephropathy is one of the major complications of Fabry disease. Glomerular and vascular changes are present before progression to overt proteinuria and decreased glomerular filtration rate, even in pediatric patients. A case of incipient renal involvement in a girl with classic Fabry disease is reported. äEarly Renal Involvement in a Girl with Classic Fabry Disease (epmc).pdf DeepDyve Pubget Overpricing