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 - Dissemin

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Elsevier, Genetics in Medicine, 3(23), p. 524-533, 2021

DOI: 10.1038/s41436-020-01010-y

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

Journal article published in 2020 by 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 and other authors.

This paper is made freely available by the publisher.

This paper is made freely available by the publisher.

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