Exotropia in a Patient With a Novel Homozygous 4-Hydroxyphenylpyruvate Dioxygenase-Like Protein (HPD...
Exotropia in a Patient With a Novel Homozygous 4-Hydroxyphenylpyruvate Dioxygenase-Like Protein (HPDL) Variant
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United States: Springer Nature B.V
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English
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United States: Springer Nature B.V
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The 4-hydroxyphenylpyruvate dioxygenase-like protein (
) is a mitochondria-localized protein involved in the biosynthesis of coenzyme Q10 in the electron transfer system, and its variants have been reported to cause progressive neurodegenerative diseases such as neonatal leukoencephalopathy and hereditary spastic paraplegia. In this case report,...
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Full title
Exotropia in a Patient With a Novel Homozygous 4-Hydroxyphenylpyruvate Dioxygenase-Like Protein (HPDL) Variant
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_12108147
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_12108147
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ISSN
2168-8184
E-ISSN
2168-8184
DOI
10.7759/cureus.83070
