A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease
Top Cited Papers
- 1 May 2006
- journal article
- research article
- Published by Elsevier in The Journal of Pediatrics
- Vol. 148 (5) , 671-676.e2
- https://doi.org/10.1016/j.jpeds.2005.11.033
Abstract
No abstract availableKeywords
This publication has 10 references indexed in Scilit:
- Long-Term Intravenous Treatment of Pompe Disease With Recombinant Human α-Glucosidase From MilkPediatrics, 2004
- Enzyme replacement therapy in late‐onset Pompe's disease: A three‐year follow‐upAnnals of Neurology, 2004
- The Natural Course of Infantile Pompe’s Disease: 20 Original Cases Compared With 133 Cases From the LiteraturePediatrics, 2003
- Identification of two subtypes of infantile acid maltase deficiencyThe Journal of Pediatrics, 2000
- Recombinant human α-glucosidase from rabbit milk in Pompe patientsThe Lancet, 2000
- 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
- Pompe's disease in Chinese and prenatal diagnosis by determination of α‐glucosidase activityJournal of Inherited Metabolic Disease, 1986
- Regression Models and Life-TablesJournal of the Royal Statistical Society Series B: Statistical Methodology, 1972
- Nonparametric Estimation from Incomplete ObservationsJournal of the American Statistical Association, 1958