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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
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New England Journal of Medicine, ISSN 0028-4793, 08/2016, Volume 375, Issue 6, pp. 545 - 555
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Rapid Communications in Mass Spectrometry, ISSN 0951-4198, 04/2010, Volume 24, Issue 7, pp. 1032 - 1038
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Biological Chemistry, ISSN 1431-6730, 03/2012, Volume 393, Issue 3, pp. 133 - 147
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