Methods for a prompt and reliable laboratory diagnosis of Pompe disease: Report from an international consensus meeting
- 1 March 2008
- journal article
- review article
- Published by Elsevier in Molecular Genetics and Metabolism
- Vol. 93 (3) , 275-281
- https://doi.org/10.1016/j.ymgme.2007.09.006
Abstract
No abstract availableKeywords
This publication has 33 references indexed in Scilit:
- Glycogen storage disease types I and II: Treatment updatesJournal of Inherited Metabolic Disease, 2007
- Recombinant human acid α-glucosidaseNeurology, 2007
- Pompe disease diagnosis and management guidelineGenetics in Medicine, 2006
- Diagnostic challenges for Pompe disease: An under-recognized cause of floppy baby syndromeGenetics in Medicine, 2006
- A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe diseaseThe Journal of Pediatrics, 2006
- Long-Term Intravenous Treatment of Pompe Disease With Recombinant Human α-Glucosidase From MilkPediatrics, 2004
- Pompe disease in infants and childrenThe Journal of Pediatrics, 2004
- The Natural Course of Infantile Pompe’s Disease: 20 Original Cases Compared With 133 Cases From the LiteraturePediatrics, 2003
- Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counsellingEuropean Journal of Human Genetics, 1999
- Carrier frequency for glycogen storage disease type II in New York and estimates of affected individuals born with the diseaseAmerican Journal of Medical Genetics, 1998