Concepedia

Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program

Paul Labrousse, Yin‐Hsiu Chien, Robert J. Pomponio, Joan Keutzer, Ni‐Chung Lee, Viatcheslav R. Akmaev, Thomas Scholl, Wuh‐Liang Hwu

Molecular Genetics and Metabolism · 2009 · 103 citations · 23 references

DOI

Concepts

References

23

The metabolic and molecular bases of inherited disease

Ying-Tsong Chen · Medical Entomology and Zoology · 2001 · 6.9K citations

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Recombinant human acid α-glucosidase

Priya S. Kishnani, Deya Corzo, Marc Nicolino et al. · Neurology · 2006 · 772 citations · Full text

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A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease

Priya S. Kishnani, Wuh‐Liang Hwu, Hanna Mandel et al. · The Journal of Pediatrics · 2006 · 585 citations

, , +3

Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients

M.L.C. Hagemans · Brain · 2005 · 366 citations · Full text

, , +16

Early Treatment With Alglucosidase Alfa Prolongs Long-Term Survival of Infants With Pompe Disease

Priya S. Kishnani, Deya Corzo, Nancy D. Leslie et al. · Pediatric Research · 2009 · 339 citations · Full text

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