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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

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