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Clinical utility of methionine restriction in adenosine kinase deficiency

Abstract 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. Characteri...

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Autori principali: Najmah Almuhsen, Simon‐pierre Guay, Marie Lefrancois, Cheryl Gauvin, AL Qasim Al Bahlani, Najma Ahmed, Christine Saint‐Martin, Tommy Gagnon, Paula Waters, Nancy Braverman, D. Buhas
Natura: Artigo
Lingua:Inglês
Pubblicazione: Wiley 2021-09-01
Serie:JIMD Reports
Soggetti:
ADK deficiency
adenosine
gestational alloimmune disease
hypermethioninemia
liver dysfunction in metabolic disease
methionine
Accesso online:https://doi.org/10.1002/jmd2.12238
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