Publication
Glycosylphosphatidylinositol Biosynthesis Defect Due To Novel Biallelic Pathogenic Variants in PIGW
Nazim Rabouhi, Smrithi Salian, Hind Benkerroum, Takeshi Yoshida, Humayra Uddin, Thi Tuyet Mai Nguyen, Takako Fujita, Shinichi Hirose, Kenjiro Kosaki, Mathilde Lefebvre, Nicolas Bourgon, Christel Thauvin-Robinet, Aelita Kamalova, Almaziya Shakhirova, Harinder Gill, Hyun Kyung Lee, Leonie A. Menke, Taroh Kinoshita, Yoshiko Murakami, Philippe M. Campeau
Pediatric Neurology, June 2025, Elsevier
DOI: 10.1016/j.pediatrneurol.2025.03.012