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

• Main Authors: Narcisse Elenga (Author), Alain Verloes (Author), Yajaira Mrsic (Author), Célia Basurko (Author), Roxane Schaub (Author), Emma Cuadro-Alvarez (Author), Rémi Kom-Tchameni (Author), Gabriel Carles (Author), Véronique Lambert (Author), Rachida Boukhari (Author), Aniza Fahrasmane (Author), Anne Jolivet (Author), Mathieu Nacher (Author), Jean-François Benoist (Author)
• Format: Book
• Published: BMJ Publishing Group, 2018-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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 of...