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Infectious Diseases of Poverty|February 8, 2025
Association between Loa loa microfilaremia and anatomical hyposplenia in a rural area of the Republic of Congo: a population-based cross-sectional studyCharlotte Boullé, Elodie Lebredonchel, Jérémy T Campillo, et al.
Molecular Genetics and Metabolism Reports|July 5, 2022
A novel HADHA variant associated with an atypical moderate and late-onset LCHAD deficiencyAnne-Frédérique Dessein, Eléonore Hebbar, Joseph Vamecq, et al.
Infectious Diseases of Poverty|August 21, 2025
Chronic kidney disease related to Loa loa microfilaremia in a rural area of the Republic of Congo: a population-based cross-sectional studyCharlotte Boullé, Jérémy T Campillo, Marlhand C Hemilembolo, et al.
Molecular Genetics and Metabolism|February 21, 2026
A founder variant in Tunisian PMM2-CDG patients: An integrated clinical, radiological, biochemical, and genetic studyLilia Kraoua, Thouraya Ben Younes, Monia El Asmi, et al.
Molecular Genetics and Metabolism|October 31, 2025
Oral D-mannose therapy during pregnancy in a woman with MPI-CDG: A case report and management reviewLionel Martzolff, Alexandre Raynor, Elodie Lebredonchel, et al.
Plos Neglected Tropical Diseases|September 15, 2025
Disability and quality of life assessment using WHODAS-12 items 2.0 and EQ-5D-5L in a rural area endemic for loiasis in the Republic of Congo: A population-based cross-sectional study (the MorLo project)Marlhand C Hemilembolo, Jérémy T Campillo, Valentin Dupasquier, et al.
The Biochemical Journal|March 9, 2017
Manganese-induced turnover of TMEM165Sven Potelle, Eudoxie Dulary, Leslie Climer, et al.
Translational Research : the Journal of Laboratory and Clinical Medicine|November 28, 2023
Efficacy of oral manganese and D-galactose therapy in a patient bearing a novel TMEM165 variantZoé Durin, Alexandre Raynor, François Fenaille, et al.
International Journal of Molecular Sciences|July 2, 2021
Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal DystrophyVasily Smirnov, Olivier Grunewald, Jean Muller, et al.
Journal of Inherited Metabolic Disease|October 24, 2025
ATP6AP2-Related Disease Caused by Splicing Defects: Abnormal Glycosylation and the First Affected FemaleAlexandre Raynor, Jean-Madeleine de Sainte-Agathe, Merel A Post, et al.
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