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Consideration of a metabolic disorder in the differential of mild developmental delay: A case of nonketotic hyperglycinemia revisited 36 years later

We present a 53‐year‐old male with nonketotic hyperglycinemia (NKH) who presented in decompensated state to our university hospital several months prior to a primary diagnosis of multifocal pneumonia accompanied by reports of seizure‐like activity, altered mental status, tremors, and fever. He was i...

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Detalles Bibliográficos
Autores principales: Tramontana, Timothy F., Wilson, Theodore E., Hainline, Bryan E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8100393/
https://www.ncbi.nlm.nih.gov/pubmed/33977025
http://dx.doi.org/10.1002/jmd2.12208