Case Report: Adenosine kinase deficiency diagnosed 10 years after liver transplantation: Novel phenotypic insights

Adenosine kinase (ADK) deficiency is a rare inborn error of methionine and adenosine metabolism. So far, a total of 27 patients with ADK deficiency have been reported. Here, we describe the first Polish patient diagnosed with ADK deficiency, aiming to highlight the clinical presentation of disease,...

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Detalles Bibliográficos
Autores principales: Lipiński, Patryk, Ciara, Elżbieta, Jurkiewicz, Dorota, Pronicki, Maciej, Jurkiewicz, Elżbieta, Bogdańska, Anna, Płoski, Rafał, Jankowska, Irena
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9794844/
https://www.ncbi.nlm.nih.gov/pubmed/36589157
http://dx.doi.org/10.3389/fped.2022.1061043

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9794844/
https://www.ncbi.nlm.nih.gov/pubmed/36589157
http://dx.doi.org/10.3389/fped.2022.1061043

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