<i>HPDL</i> Variant Type Correlates With Clinical Disease Onset and Severity

<i>HPDL</i> Variant Type Correlates With Clinical Disease Onset and Severity

ABSTRACT Objective Recently, a mitochondrial encephalopathy due to biallelic HPDL variants was described, associated with a broad range of clinical manifestations ranging from severe, infantile‐onset neurodegeneration to adolescence‐onset hereditary spastic paraplegia. HPDL converts 4‐hydroxyphenylp...

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主要な著者: Eun Hye Lee, Olivia Kim McManus, Jennifer H. Yang, Richard Haas, Maha S. Zaki, Ghada M. H. Abdel‐Salam, Y. Nakamura, Mohamed S. Abdel‐Hamind, Darius Ebrahimi‐Fakhari, Julian E. Alecu, Nicola Brunetti‐Pierri, Varunvenkat M. Srinivasan, Vykuntaraju K. Gowda, Stanley Gross, Yasemin Alanay, Paria Najarzadeh Totbati, Manya Yadavilli, Linda R. Friedman, Naomi Meave Ojeda, Joseph G. Gleeson
フォーマット: Artigo
言語:英語
出版事項: 2025
オンライン･アクセス:https://doi.org/10.1002/acn3.70047
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https://doi.org/10.1002/acn3.70047

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