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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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Bibliografiske detaljer
Udgivet i:J Pediatr Genet
Main Authors: Singh, Ankur, Prasad, Rajniti, Mishra, Om Prakash
Format: Artigo
Sprog:Inglês
Udgivet: Georg Thieme Verlag KG 2020
Online adgang: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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