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Enzyme analysis for Pompe disease in leukocytes; superior results with natural substrate compared with artificial substrates. [electronic resource] by
- van Diggelen, O P
- Oemardien, L F
- van der Beek, N A M E
- Kroos, M A
- Wind, H K
- Voznyi, Y V
- Burke, D
- Jackson, M
- Winchester, B G
- Reuser, A J J
Producer: 20090819
In:
Journal of inherited metabolic disease vol. 32
Availability: No items available.
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Cardiac evaluation in children and adults with Pompe disease sharing the common c.-32-13T>G genotype rarely reveals abnormalities. [electronic resource] by
- van der Beek, N A M E
- Soliman, O I I
- van Capelle, C I
- Geleijnse, M L
- Vletter, W B
- Kroos, M A
- Reuser, A J J
- Frohn-Mulder, I M E
- van Doorn, P A
- van der Ploeg, A T
Producer: 20090409
In:
Journal of the neurological sciences vol. 275
Availability: No items available.
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Facial-muscle weakness, speech disorders and dysphagia are common in patients with classic infantile Pompe disease treated with enzyme therapy. [electronic resource] by
- van Gelder, C M
- van Capelle, C I
- Ebbink, B J
- Moor-van Nugteren, I
- van den Hout, J M P
- Hakkesteegt, M M
- van Doorn, P A
- de Coo, I F M
- Reuser, A J J
- de Gier, H H W
- van der Ploeg, A T
Producer: 20120809
In:
Journal of inherited metabolic disease vol. 35
Availability: No items available.
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Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotype. [electronic resource] by
- Kroos, M A
- Pomponio, R J
- Hagemans, M L
- Keulemans, J L M
- Phipps, M
- DeRiso, M
- Palmer, R E
- Ausems, M G E M
- Van der Beek, N A M E
- Van Diggelen, O P
- Halley, D J J
- Van der Ploeg, A T
- Reuser, A J J
Producer: 20070130
In:
Neurology vol. 68
Availability: No items available.
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