<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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Príomhchruthaitheoirí: 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
Formáid: Artigo
Teanga:Béarla
Foilsithe / Cruthaithe: 2025
Rochtain ar líne:https://doi.org/10.1002/acn3.70047
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https://doi.org/10.1002/acn3.70047

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