Later-Onset Pompe Disease: Early Detection and Early Treatment Initiation Enabled by Newborn Screening
- 30 June 2011
- journal article
- Published by Elsevier BV in The Journal of Pediatrics
- Vol. 158 (6), 1023-1027.e1
- https://doi.org/10.1016/j.jpeds.2010.11.053
Abstract
No abstract availableKeywords
Funding Information
- National Science Council (NSC96-2314-B-002-044-MY3)
- Genzyme (NSC96-2314-B-002-044-MY3)
This publication has 20 references indexed in Scilit:
- Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot programMolecular Genetics and Metabolism, 2010
- Pompe Disease in Infants: Improving the Prognosis by Newborn Screening and Early TreatmentPEDIATRICS, 2009
- High frequency of acid α-glucosidase pseudodeficiency complicates newborn screening for glycogen storage disease type II in the Japanese populationMolecular Genetics and Metabolism, 2009
- Screening for pompe disease using a rapid dried blood spot method: Experience of a clinical diagnostic laboratoryMuscle & Nerve, 2009
- Enzyme analysis for Pompe disease in leukocytes; superior results with natural substrate compared with artificial substratesJournal of Inherited Metabolic Disease, 2009
- Improvement with ongoing Enzyme Replacement Therapy in advanced late-onset Pompe disease: A case studyMolecular Genetics and Metabolism, 2008
- Early Detection of Pompe Disease by Newborn Screening Is Feasible: Results From the Taiwan Screening ProgramPEDIATRICS, 2008
- Late onset Pompe disease: Clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patientsNeuromuscular Disorders, 2007
- Structural and biochemical studies on Pompe disease and a “pseudodeficiency of acid α-glucosidase”Journal of Human Genetics, 2007
- Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patientsBrain, 2005