Associated Papers
HPDL Variant Type Correlates With Clinical Disease Onset and Severity.
Lee EH et al.
Annals of Clinical and Translational Neurology, 2025
Quantitative natural history modeling of HPDL-related disease based on cross-sectional data reveals genotype-phenotype correlations.
Alecu JE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
A novel homozygous HPDL variant in Japanese siblings with autosomal recessive hereditary spastic paraplegia: case report and literature review.
Kojima F et al.
Neurogenetics, 2024
Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition.
Ghosh SG et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
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