Associated Papers
Biochemical and mutational analyses of HEXA in a cohort of Egyptian patients with infantile Tay-Sachs disease. Expansion of the mutation spectrum.
Ibrahim DMA et al.
Orphanet Journal of Rare Diseases, 2023
Lysosomal Dysfunction and Other Pathomechanisms in FTLD: Evidence from Progranulin Genetics and Biology.
Zhou X et al.
Advances in Experimental Medicine and Biology, 2021
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