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Anaesthesia Challenges for a Patient with Phosphoglycerate Kinase Deficiency Undergoing Open Gastrostomy Procedure: A Case Report
Phosphoglycerate kinase deficiency (PGK1D) is a rare X-linked metabolic disorder with variable phenotype. Mutations of the PGK1 gene result in clinically variable spherocytic hemolytic anemia and variable defects in the central nervous system. Rhabdomyolysis, myopathy, migraine, and retinal involvem...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Sciendo
2022
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9949019/ https://www.ncbi.nlm.nih.gov/pubmed/36844121 http://dx.doi.org/10.2478/rjaic-2021-0014 |