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Current Protocols in Human Genetics, ISSN 1934-8266, 04/2017, Volume 2017, pp. 17.26.1 - 17.26.12
Fabry disease is a complex, panethnic lysosomal storage disorder. It is characterized by the accumulation of glycosphingolipids in tissues, organs, the... 
Urine | Fabry disease | Globotriaosylceramide (Gb | Filter paper sample | High-risk screening | Mass spectrometry | Postal Service | Tandem Mass Spectrometry | Trihexosylceramides - urine | Humans | Female | Genotype | Male | Paper | Fabry Disease - urine | alpha-Galactosidase | Fabry Disease - diagnosis | Filtration - instrumentation
Journal Article
Journal Article
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association, ISSN 0931-0509, 2011, Volume 26, Issue 10, pp. 3195 - 3202
Journal Article
Journal Article
Clinical Chemistry and Laboratory Medicine, ISSN 1434-6621, 02/2010, Volume 48, Issue 2, pp. 189 - 198
Journal Article
PLoS ONE, ISSN 1932-6203, 2012, Volume 7, Issue 10, pp. e47805 - 7 p.
Journal Article
PLoS ONE, ISSN 1932-6203, 2015, Volume 10, Issue 5, p. e0124987
This analysis characterizes the degree of early organ involvement in a cohort of oligo-symptomatic untreated young patients with Fabry disease enrolled in an... 
GALACTOSIDASE-A-GENE | ADOLESCENTS | MULTIDISCIPLINARY SCIENCES | HUMAN ALPHA-GALACTOSIDASE | RENAL-FUNCTION | ENDOTHELIAL FENESTRATION | MUTATIONS | ENZYME REPLACEMENT THERAPY | AGALSIDASE-BETA THERAPY | NEPHROPATHY | CHILDREN | Demography | Kidney - pathology | Humans | Child, Preschool | Iohexol | Trihexosylceramides - blood | Male | Fabry Disease - blood | Sphingolipids - blood | Glycolipids - blood | Fabry Disease - drug therapy | Child | Kidney - physiopathology | Trihexosylceramides - genetics | Glomerular Filtration Rate | Genotype | Fabry Disease - urine | Mutation - genetics | Kidney - ultrastructure | Skin - blood supply | Biopsy | Trihexosylceramides - urine | Adolescent | Brain - pathology | Fabry Disease - physiopathology | Quality of Life | Endothelium, Vascular - pathology | Clinical trials | Lipids | Chemical properties | Contrast media | Globotriaosylceramide | Pediatrics | Plasma | Renal function | Nuclear magnetic resonance--NMR | Galactosidase | Smooth muscle | Males | Tissues | Accumulation | Ethics | Randomization | Distal tubules | Mesangial cells | Teenagers | Children | Lesions | Drug dosages | Urine | Creatinine | Enzymes | Damage assessment | Kidneys | Medical treatment | Muscles | Tubules | Electron microscopy | Patients | Endothelial cells | Fabry's disease | Quality of life | Children & youth | Glomerular filtration rate | Pathology | Hospitals | Product development | Skin | Collecting duct | Kidney transplantation | Nuclear magnetic resonance | NMR
Journal Article