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

Neurodegenerative DiseasesAldehyde DehydrogenaseMendelian DisorderBiochemistryBiallelic VariantsNatural SciencesGeneticsGenetic DisorderMolecular Biology4-Hydroxyphenylpyruvate Dioxygenase-like ProteinDegenerative PathologyDegenerative DiseaseNeurodegenerationInfantile Neurodegenerative ConditionMedicineNeurogenetics