Authors:
Westphal, V
Peterson, S
Patterson, M
Tournay, A
Blumenthal, A
Treacy, EP
Freeze, HH
Citation: V. Westphal et al., Functional significance of PMM2 mutations in mildly affected patients withcongenital disorders of glycosylation Ia, GENET MED, 3(6), 2001, pp. 393-398
Authors:
Altarescu, G
Hill, S
Wiggs, E
Jeffries, N
Kreps, C
Parker , CC
Brady, RO
Barton, NW
Schiffmann, R
Bannarjee, TK
Crutchfield, K
Frei, K
McKee, MA
Moore, DF
Tournay, A
Citation: G. Altarescu et al., The efficacy of enzyme replacement therapy in patients with chronic neuronopathic Gaucher's disease, J PEDIAT, 138(4), 2001, pp. 539-547