8 results on '"Nieves Cobos, Paulina"'
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2. Diagnostic efficacy of the fluorometric determination of enzyme activity for Pompe disease from dried blood specimens compared with lymphocytes—possibility for newborn screening
3. At-Risk Testing for Pompe Disease Using Dried Blood Spots: Lessons Learned for Newborn Screening
4. Investigating the suitability of high-resolution mass spectrometry for newborn screening: identification of hemoglobinopathies and β-thalassemias in dried blood spots
5. Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness
6. .
7. The Incidence of Late-Onset Pompe Disease in Subjects with Obstructive Sleep Apnea: A Cross-Sectional Study
8. Diagnostic efficacy of the fluorometric determination of enzyme activity for Pompe disease from dried blood specimens compared with lymphocytes—possibility for newborn screening
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