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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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Detalhes bibliográficos
Publicado no:J Pediatr Genet
Main Authors: Singh, Ankur, Prasad, Rajniti, Mishra, Om Prakash
Formato: Artigo
Idioma:Inglês
Publicado em: Georg Thieme Verlag KG 2020
Acesso em linha: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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