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Lysosomal Storage Disorders: Clinical, Biochemical and molecular profile from Rare disease centre, India
INTRODUCTION: Lysosomal storage disorders (LSDs) are a heterogeneous group of large molecule inborn errors of metabolism, rather commonly seen by clinician. OBJECTIVES: This study aims to highlight the more common type of LSDs, their frequency, clinical spectrum and outcome from Rare disease centre...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Wolters Kluwer - Medknow
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8680872/ https://www.ncbi.nlm.nih.gov/pubmed/35002125 http://dx.doi.org/10.4103/aian.AIAN_1009_20 |