Spectrum of Common and Rare Small Molecule Inborn Errors of Metabolism Diagnosed in a Tertiary Care Center of Maharashtra, India

Introduction Inborn errors of metabolism (IEM) form a large group of genetic diseases involving defects in genes coding for enzymes, receptors, and cofactors in the metabolic pathways of small and large molecules. The present study is the comprehensive data analysis of the tandem mass spectrometry (...

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Detalles Bibliográficos
Autores principales: Tamrakar, Anish, Kale, Anjali, Magar, Suvarna, Kale, Ajay, Ingale, Vinod, Shewale, Nilesh, Engade, Madhuri, Shelke, Madhavi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9392462/
https://www.ncbi.nlm.nih.gov/pubmed/36004034
http://dx.doi.org/10.7759/cureus.27104

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