Later-Onset Pompe Disease: Early Detection and Early Treatment Initiation Enabled by Newborn Screening

The metabolic and molecular bases of inherited disease

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

Life Sciences, Genetics, Molecular Genetics +14

A Randomized Study of Alglucosidase Alfa in Late-Onset Pompe's Disease

Ans T. van der Ploeg, Paula R. Clemens, Deyanira Corzo et al. · New England Journal of Medicine · 2010 · 747 citations · Full text

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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

Medicine, Internal Medicine, Neurology +16

Peabody developmental motor scales

Folio · Medical Entomology and Zoology · 1983 · 256 citations

Education, Human Development, Psychology +9

Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial

S. Strothotte, N. Strigl‐Pill, Birgit Grunert et al. · Journal of Neurology · 2009 · 254 citations

Life Sciences, Biochemistry, Pharmacotherapy +12