Clinical utility of methionine restriction in adenosine kinase deficiency

Adenosine kinase (ADK) deficiency is a rare autosomal recessive inborn error of metabolism involving the methionine and purine metabolic pathways. Prior reports show that most patients present in infancy with jaundice, hypotonia, developmental delay, and mild dysmorphic features. Characteristic bioc...

Descripción completa

Detalles Bibliográficos
Autores principales: Almuhsen, Najmah, Guay, Simon‐pierre, Lefrancois, Marie, Gauvin, Cheryl, Al Bahlani, AL Qasim, Ahmed, Najma, Saint‐Martin, Christine, Gagnon, Tommy, Waters, Paula, Braverman, Nancy, Buhas, D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2021
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8411109/
https://www.ncbi.nlm.nih.gov/pubmed/34485018
http://dx.doi.org/10.1002/jmd2.12238

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8411109/
https://www.ncbi.nlm.nih.gov/pubmed/34485018
http://dx.doi.org/10.1002/jmd2.12238

Ejemplares similares