Shortcast: Late infantile & adult-onset MLD due to novel missense variants in the PSAP gene

from JIMD Podcasts · host Journal of Inherited Metabolic Disease

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

Episode metadata supplied by the publisher feed · Published Jun 14, 2023

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Shortcast: Late infantile & adult-onset MLD due to novel missense variants in the PSAP gene

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