Lysosomal Enzymes

Purpose: Lysosomal enzymes, testing of reproducibility and ability to detect
enzyme deficiencies in LSD's.
Scientific Expert: Dr. Kees Schoonderwoerd, e-mail: g.schoonderwoerd@erasmusmc.nl
Scheme Organiser: Dr. C. Weykamp e-mail: c.w.weykamp@skbwinterswijk.nl
Analytes: Alpha-Galactosidase, Galactose-6-sulphate sulphatase, beta-Galactosidase, alpha-Glucosidase, beta-Glucosidase, beta-Hexosaminidase A, beta-Hexosaminidase A+B, alpha-Iduronidase, Galactosylceramidase, Sphingomyelinase (2015)
Number of Specimens/Year: 8 lyophilised specimens for standard scheme.
Matrix of the Specimens: Lyophilised fibroblasts
Volume/Specimen: 0.5 mg lyophilised protein/standard specimen.
Number of Shipments/Year: One shipment of 8 specimens in February
Submission of Results: Via ERNDIM Interactive Website, 4 times/year, 2 months intervals
Reports: Requested from ERNDIM Interactive Website.
Certificate: Once a year issued by ERNDIM board
Number of Participants: 77 (2014)
Status of the Scheme: Pilot phase started in 2006 initiated by the ESGLD.
Regular ERNDIM scheme since 2010
Geographic Area: Worldwide
Limitation Participation: None.
Cost/Year: 515 EURO (2015)
How to subscribe: Dr. Sara Gardner, e-mail: admin@erndim.org
Annual report: Click here for the annual reports
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