Maladie de Pompe (French Wikipedia)
Analysis of information sources in references of the Wikipedia article "Maladie de Pompe" in French language version.
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biomedcentral.com
ojrd.biomedcentral.com
- Prater SN, Patel TT, Buckley AF et al. Skeletal muscle pathology of infantile Pompe disease during long-term enzyme replacement therapy, Orphanet J Rare Dis, 2013;8:90-90
doi.org
dx.doi.org
intertio.fr
- INTERTIO, « Maladie de Pompe », sur www.intertio.fr,
jpeds.com
- (en) P.S. Kishnani, M. Nicolino, T.Voit et al., « Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease », J. Pediatr., vol. 149, no 1, , p. 89-97 (lire en ligne)
nejm.org
- Cohen JL, Chakraborty P, Fung-Kee-Fung K et al. In utero enzyme-replacement therapy for infantile-onset Pompe’s disease, N Engl J Med, 2022;387:2150-2158
neurology.org
- (en) Hagemans ML, Hop WJ, Van Doorn PA, Reuser AJ, Van der Ploeg AT. « Course of disability and respiratory function in untreated late-onset Pompe disease » Neurology 2006;66:581-3.
nih.gov
ncbi.nlm.nih.gov
- Colburn R et Lapidus D, « An analysis of Pompe newborn screening data: a new prevalence at birth, insight and discussion », Frontiers in Pediatrics, vol. 11, (PMID 38274468, PMCID 10810242, DOI 10.3389/fped.2023.1221140
) - (en) Seifert BL, Snyder MS, Klein AA, O'Loughlin JE, Magid MS, Engle MA, « Development of obstruction to ventricular outflow and impairment of inflow in glycogen storage disease of the heart: serial echocardiographic studies from birth to death at 6 months » Am Heart J. 1992;123:239-42.
- (en) Besancon AM, Castelnau L, Nicolesco H, Dumez Y, Poenaru L. « Prenatal diagnosis of glycogenosis type II (Pompe's disease) using chorionic villi biopsy » Clin Genet. 1985;27:479-482
pompecenter.nl
sciencedirect.com
- Kishnani PS, Goldenberg PC, DeArmey SL et al. Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants, Mol Genet Metab, 2010;99:26-33
- Kishnani PS, Dickson PI, Muldowney L et al. Immune response to enzyme replacement therapies in lysosomal storage diseases and the role of immune tolerance induction, Mol Genet Metab, 2016;117:66-83
thelancet.com
- (en) van der Ploeg AT, Reuser A JJ, « Pompe's disease » Lancet 2008;372:1342-53.
wiley.com
onlinelibrary.wiley.com
- (en) L.P. Winkel,J.M. Van den Hout, J.H. Kamphoven et al., « Enzyme replacement therapy in late-onset Pompe's disease: a three-year follow-up », Ann. Neurol., vol. 55, no 4, , p. 495-502 (lire en ligne)