Incidence of infantile Pompe disease in the Maroon population of French Guiana

OBJECTIVES: The aim of this study was to describe the epidemiology of infantile Pompe disease (IPD) in French Guiana, a French overseas territory, by combining a retrospective case records study and a prospective anonymous genotyping in a sample of mothers followed in the two major maternity units o...

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Bibliografske podrobnosti
izdano v:BMJ Paediatr Open
Main Authors: Elenga, Narcisse, Verloes, Alain, Mrsic, Yajaira, Basurko, Célia, Schaub, Roxane, Cuadro-Alvarez, Emma, Kom-Tchameni, Rémi, Carles, Gabriel, Lambert, Véronique, Boukhari, Rachida, Fahrasmane, Aniza, Jolivet, Anne, Nacher, Mathieu, Benoist, Jean-François
Format: Artigo
Jezik:Inglês
Izdano: BMJ Publishing Group 2018
Teme:
Original Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC5842995/
https://ncbi.nlm.nih.gov/pubmed/29637184
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bmjpo-2017-000182
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