Early administration of enzyme replacement therapy for Pompe disease: Short-term follow-up results
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/s10545-008-1000-0
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3. Chien YH, Chiang SC, Zhang XK, et al (2008) Early detection of Pompe disease by newborn screening is feasible: results from the Taiwan screening program. Pediatrics 122(1): e39–45. Epub 2008 Jun 2.
4. Fesslova’ V, Nava S, Villa L (1999) Evolution and long term outcome in cases with fetal diagnosis of congenital heart disease: Italian multicentre study. Fetal Cardiology Study Group of the Italian Society of Pediatric Cardiology. Heart 82: 594–599.
5. Fowler DJ, Anderson G, Vellodi A, Malone M, Sebire NJ (2007) Electron microscopy of chorionic villus samples for prenatal diagnosis of lysosomal storage disorders. Ultrastruct Pathol 31: 15–21. doi: 10.1080/01913120601169469 .
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1. Risk of Cardiac Arrhythmias in Patients with Late-Onset Pompe Disease—Results from a Long Follow-Up in a Group of 12 Patients and Review of Literature;Cardiogenetics;2024-02-12
2. Enzyme Replacement Therapy (ERT) on Heart Function Changes the Outcome in Patients with Infantile-Onset Pompe Disease: A Familial History;Case Reports in Pediatrics;2023-02-17
3. A Race Against Time—Changing the Natural History of CRIM Negative Infantile Pompe Disease;Frontiers in Immunology;2020-09-04
4. New in Newborn Screening;Current Genetic Medicine Reports;2017-08-01
5. Response of 33 UK patients with infantile-onset Pompe disease to enzyme replacement therapy;Journal of Inherited Metabolic Disease;2015-10-26
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