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Glycogen Storage Disease Type I With Hypercalcemia in an Infant: A Case Report
Glycogen storage disease type I (GSDI) is an uncommon condition resulting from a deficiency or absence of glucose-6-phosphatase, a key enzyme in regulating blood glucose levels. In this report, we describe a two-month-old girl diagnosed with GSDI who presented to the emergency department in a tertia...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cureus
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10640896/ https://www.ncbi.nlm.nih.gov/pubmed/38021743 http://dx.doi.org/10.7759/cureus.46987 |