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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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| Veröffentlicht in: | J Pediatr Genet |
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| Hauptverfasser: | , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Georg Thieme Verlag KG
2020
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| Online Zugang: | 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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