Shortcast: Late infantile & adult-onset MLD due to novel missense variants in the PSAP gene
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Professor Jayesh Sheth discusses two patients diagnosed with MLD following milder presentations, both related to novel missense variants in the PSAP gene.
Late infantile and adult-onset metachromatic leukodystrophy due to novel missense variants in the PSAP gene: Case report from India
Jayesh Sheth, et al
https://doi.org/10.1002/jmd2.12374
Shortcast: Late infantile & adult-onset MLD due to novel missense variants in the PSAP gene