Associated Papers
Two novel heterozygous HPDL variants in a Chinese family with a neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities.
Ma Y et al.
Gene, 2025
Acute Ophthalmoplegia with Wernicke-Like MRI Pattern in a Patient with HPDL-Related Disorder.
Sartorelli J et al.
Movement Disorders Clinical Practice, 2024
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