Spectrum of Lysosomal Storage Disorders at Tertiary Centre: Retrospective Case-Record Analysis.
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DOI: 10.1055/s-0039-3402070
Abstract: Lysosomal storage disorders (LSDs) are relatively common slow progressive inborn error of metabolism encountered by clinicians. This work intends to highlight the more common LSDs, their clinical presentation, outcome, and mutation (wherever feasible) collected from… read more here.
Keywords: disorders tertiary; lysosomal storage; analysis; spectrum lysosomal ... See more keywords