Targeted-Capture Next-Generation Sequencing in Diagnosis Approach of Pediatric Cholestasis

Autor: Marion Almes, Anne Spraul, Mathias Ruiz, Muriel Girard, Bertrand Roquelaure, Nolwenn Laborde, Fréderic Gottrand, Anne Turquet, Thierry Lamireau, Alain Dabadie, Marjorie Bonneton, Alice Thebaut, Babara Rohmer, Florence Lacaille, Pierre Broué, Alexandre Fabre, Karine Mention-Mulliez, Jérôme Bouligand, Emmanuel Jacquemin, Emmanuel Gonzales

Publikováno v: Diagnostics, Vol 12, Iss 5, p 1169 (2022)

Background: Cholestasis is a frequent and severe condition during childhood. Genetic cholestatic diseases represent up to 25% of pediatric cholestasis. Molecular analysis by targeted-capture next generation sequencing (NGS) has recently emerged as an

Externí odkaz: https://doaj.org/article/71ba909fe65b4bb7be1a22d10e514f3b

Sustainable positive response to sirolimus in juvenile polyposis of infancy

Autor: Nathalie Vergnolle, Marie Danjoux, Muriel Quaranta, Emmanuel Mas, Claire Racaud-Sultan, Audrey Ferrand, Frédérick Barreau, Nolwenn Laborde

Publikováno v: Journal of Pediatric Gastroenterology and Nutrition
Journal of Pediatric Gastroenterology and Nutrition, Lippincott, Williams & Wilkins, 2019, 68 (2), pp.e38-e40. ⟨10.1097/MPG.0000000000002179⟩
Journal of Pediatric Gastroenterology and Nutrition, 2019, 68 (2), pp.e38-e40. ⟨10.1097/MPG.0000000000002179⟩

International audience

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69fdf08c221918ba345e0b60480f17cd
https://hal.archives-ouvertes.fr/hal-02332395