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High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency).

Bibliographic reference Grünewald, S ; Schollen, E ; Van Schaftingen, Emile ; Jaeken, J ; Matthijs, G. High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency).. In: American Journal of Human Genetics, Vol. 68, no.2, p. 347-54 (2001)
Permanent URL http://hdl.handle.net/2078.1/131948