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...

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Veröffentlicht in:	JIMD reports 2021, Vol.61 (1), p.52-59
Hauptverfasser:	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
Format:	Report
Sprache:	eng
Online-Zugang:	Volltext
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