Concepedia

Rapid diagnosis of late-onset Pompe disease by fluorometric assay of α-glucosidase activities in dried blood spots

Helmut Kallwass, Cortney Carr, Joseph Gerrein, Mariah Titlow, Robert J. Pomponio, Deeksha Bali, Jian Dai, Priya S. Kishnani, Alison Skrinar, Deyanira Corzo,

Molecular Genetics and Metabolism · 2007 · 58 citations · 17 references

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17

The metabolic and molecular bases of inherited disease

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

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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

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Recombinant human acid α-glucosidase enzyme therapy for infantile glycogen storage disease type II: Results of a phase I/II clinical trial

Andrea Amalfitano, A. Resai Bengur, Richard P. Morse et al. · Genetics in Medicine · 2001 · 347 citations · Full text

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Direct Multiplex Assay of Lysosomal Enzymes in Dried Blood Spots for Newborn Screening

Yijun Li, C. Ronald Scott, Néstor Chamoles et al. · Clinical Chemistry · 2004 · 333 citations · Full text

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Chinese hamster ovary cell-derived recombinant human acid α-glucosidase in infantile-onset Pompe disease

Priya S. Kishnani, Marc Nicolino, Thomas Voït et al. · The Journal of Pediatrics · 2006 · 283 citations · Full text

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