Associated Papers
The earliest enzyme replacement for infantile-onset Pompe disease in Japan.
Tocan V et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2022
Genotypic and phenotypic characteristics of 12 chinese children with glycogen storage diseases.
Dong R et al.
Frontiers in Genetics, 2022
Effect of enzyme therapy in juvenile patients with Pompe disease: a three-year open-label study.
van Capelle CI et al.
Neuromuscular Disorders : Nmd, 2010
Identification of eight novel mutations of the acid alpha-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II.
Wan L et al.
Journal of Neurology, 2008
A case of childhood Pompe disease demonstrating phenotypic variability of p.Asp645Asn.
Kroos MA et al.
Neuromuscular Disorders : Nmd, 2004
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