disease
Galactosialidosis
description
Protective protein / Cathepsine A associates with β-galactosidase and neuraminidase in an enzyme complex and a deficiency leads to a combined deficiency of β-galactosidase and neuraminidase activity. This is associated with Galactosialidosis and storage of gangliosides and sialyloligosaccharides.
materials
| material | Cultured fibroblasts |
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| conditions | Do not freeze or heat the samples! |
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| specifics | Grow the cells to near confluence in a T-25 flask, fill the flask completely with sterile culture media, cap the flasks tightly and wrap the cap with parafilm. Label the flask clearly with identifying information and date of collection, wrap in protective material and place in a sealed plastic bag in the Styrofoam shipping box. |
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| turn around time | 3 weeks |
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| price | Please inquire via gmz_enzym@amc.nl |
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| material | Skin biopsy - fibroblasts are cultured at lab GMD |
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| conditions | Do not freeze or heat the samples! |
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| specifics | If no fibroblasts are available yet, please send the skin biopsy in sterile culture medium without serum. The biopsy should be transported at room temperature by courier service within 48 – 72 hrs. |
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| turn around time | 3 weeks |
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| price | Please inquire via gmz_enzym@amc.nl |
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| material | Leukocytes isolated from whole blood (EDTA) at lab GMD |
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| conditions | Room temperature |
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| specifics | EDTA blood samples of patient and 1 control should be sent in clearly labeled, tightly capped tubes (incl. patient info), wrapped in protective material, placed in a sealed plastic bag and shipped by carrier service in a Styrofoam shipping box. Blood samples need to arrive in our laboratory within 48 hours after drawing. |
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| turn around time | 3 weeks |
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| price | Please inquire via gmz_enzym@amc.nl |
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