ERNDIMQA - Lysosomal Enzymes
| Purpose: |
Lysosomal enzymes, testing of reproducibility and ability to detect
enzyme deficiencies in LSD's. |
| Scientific Expert: |
Marie Jackson, e-mail: marie.jackson@viapath.co.uk |
| Scheme Organiser: |
Dr. E. van der Hagen e-mail: E.vanderhagen@skbwinterswijk.nl |
| Analytes: |
alpha-galactosidase, beta-Galactosidase, alpha-glucosidase, beta-Glucosidase, alpha-N-acetylglucosaminidase, galactosylceramidase, arylsulphatase A, lysosomal acid lipase (acid esterase), palmitoyl protein thioesterase (PPT1), beta-glucurondidase (2020) |
| Number of Specimens/Year: |
6 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 6 specimens in February |
| Submission of Results: |
Via ERNDIM Interactive Website, 2 times/year, May and September |
| Reports: |
Requested from ERNDIM Interactive Website |
| Certificate: |
Once a year issued by ERNDIM Board |
| Number of Participants: |
77 (2019) |
| 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: |
670 EURO (2021) |
| How to subscribe: |
e-mail: admin@erndim.org |
| |
Click here for Annual Reports |
