Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition

Shereen G Ghosh, Sangmoon Lee, Rudy Fabunan, Guoliang Chai, Maha S Zaki, Ghada Abdel-Salam, Tipu Sultan, Tawfeg Ben-Omran, Javeria Raza Alvi, Jennifer McEvoy-Venneri, Valentina Stanley, Aakash Patel, Danica Ross, Jeffrey Ding, Mohit Jain, Daqiang Pan, Philipp Lübbert, Bernd Kammerer, Nils Wiedemann, Nanda M Verhoeven-DuifJudith J Jans, David Murphy, Mehran Beiraghi Toosi, Farah Ashrafzadeh, Shima Imannezhad, Ehsan Ghayoor Karimiani, Khalid Ibrahim, Elizabeth R Waters, Reza Maroofian, Joseph G Gleeson

Research output: Contribution to journal › Article › Academic › peer-review

Fingerprint

Dive into the research topics of 'Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition'. Together they form a unique fingerprint.

Biochemistry, Genetics and Molecular Biology