Exploring metabolic alterations in PYCR2 deficiency: Unveiling pathways and clinical presentations of hypomyelinating leukodystrophy 10
Article in American Journal of Medical Genetics Part A (May 2024)
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Article in American Journal of Medical Genetics Part A (May 2024)
Article in Molecular Metabolism (February 2024)
Preprint in medRxiv (January 2024)