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Glutaric Aciduria Type 2 Presenting in Adult Life With Hypoglycemia and Encephalopathic Hyperammonemia

Glutaric aciduria type 2 is a rare inborn disease of fatty acid metabolism. The clinical manifestation of this disease is heterogeneous and ranges from severe neonatal forms to mild late-onset forms. We present a case of a previously healthy 22-year-old woman with unexplainable hypoglycemia and ence...

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Detalles Bibliográficos
Autores principales: Sousa Martins, Rute, Guimas, Arlindo, Rocha, Sara, Ribeiro, Rosa, Martins, Esmeralda, Almeida, Manuela, Quelhas, Dulce
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elmer Press 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8913008/
https://www.ncbi.nlm.nih.gov/pubmed/35317090
http://dx.doi.org/10.14740/jmc3840