Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition
Shereen G. Ghosh(Children’s Institute), Joseph G. Gleeson(Howard Hughes Medical Institute), Shima Imannezhad(Mashhad University of Medical Sciences), Maha S. Zaki(National Research Centre), Philipp Lübbert(University of Freiburg), Mehran Beiraghi Toosi(Mashhad University of Medical Sciences), Jennifer McEvoy‐Venneri(Children’s Institute), Daqiang Pan(University of Freiburg), Ghada M. H. Abdel‐Salam(National Research Centre), David Murphy(National Hospital for Neurology and Neurosurgery), Farah Ashrafzadeh(Mashhad University of Medical Sciences), Javeria Raza Alvi, Nanda M. Verhoeven‐Duif(University Medical Center Utrecht), Guoliang Chai(Children’s Institute), Nils Wiedemann(University of Freiburg), Danica Ross(Children’s Institute), Ehsan Ghayoor Karimiani(St George's, University of London), Rudy Fabunan(San Diego State University), Judith Jans(University Medical Center Utrecht), Mohit Jain(University of California San Diego), Reza Maroofian(National Hospital for Neurology and Neurosurgery), Bernd Kammerer(University of Freiburg), Jeffrey Ding(University of California San Diego), Tipu Sultan(Cukurova University), Khalid Ibrahim, Tawfeg Ben‐Omran(Qatar Airways (Qatar)), Aakash V. Patel(Children’s Institute), Sangmoon Lee(Children’s Institute), Valentina Stanley(Children’s Institute), Elizabeth R. Waters(San Diego State University)
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