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Spectrum of Lysosomal Storage Disorders at Tertiary Centre: Retrospective Case-Record Analysis

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 the genetic clinic at tertiary ca...

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Foilsithe in:J Pediatr Genet
Main Authors: Singh, Ankur, Prasad, Rajniti, Mishra, Om Prakash
Formáid: Artigo
Teanga:Inglês
Foilsithe: Georg Thieme Verlag KG 2020
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC7183397/
https://ncbi.nlm.nih.gov/pubmed/32341810
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0039-3402070
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