Case Report: Mucolipidosis II and III Alpha/Beta Caused by Pathogenic Variants in the GNPTAB Gene (Mucolipidosis)
ObjectiveThis study aimed to improve the cognition of mucolipidosis (ML) II and III alpha/beta by analyzing the clinical manifestations of two patients.MethodsThe clinical, biochemical, and molecular data of two clinical cases associated with ML II and III alpha/beta were analyzed and compared with...
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Format: | Book |
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Frontiers Media S.A.,
2022-04-01T00:00:00Z.
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A1234.567 |
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