Ghosh, Shereen G.
Lee, Sangmoon
Fabunan, Rudy
Chai, Guoliang
Zaki, Maha S.
Abdel-Salam, Ghada
Sultan, Tipu
Ben-Omran, Tawfeg
Alvi, Javeria Raza
McEvoy-Venneri, Jennifer
Stanley, Valentina
Patel, Aakash
Ross, Danica
Ding, Jeffrey
Jain, Mohit
Pan, Daqiang
Lübbert, Philipp
Kammerer, Bernd
Wiedemann, Nils
Verhoeven-Duif, Nanda M.
Jans, Judith J.
Murphy, David
Toosi, Mehran Beiraghi
Ashrafzadeh, Farah
Imannezhad, Shima
Karimiani, Ehsan Ghayoor
Ibrahim, Khalid
Waters, Elizabeth R.
Maroofian, Reza
Gleeson, Joseph G. http://orcid.org/0000-0002-0889-9220
Funding for this research was provided by:
National Institutes of Health (S10OD020025, U01 MH108898)
Deutsche Forschungsgemeinschaft (390939984)
H2020 European Research Council (648235)
This article is maintained by: Elsevier
Article Title: Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition
Journal Title: Genetics in Medicine
CrossRef DOI link to publisher maintained version: https://doi.org/10.1038/s41436-020-01010-y
Content Type: article
Copyright: © 2021, The Author(s), under exclusive licence to the American College of Medical Genetics and Genomics