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Switch from Sodium Phenylbutyrate to Glycerol Phenylbutyrate Improved Metabolic Stability in an Adolescent with Ornithine Transcarbamylase Deficiency

A male patient, born in 1999, was diagnosed with ornithine transcarbamylase deficiency as neonate and was managed with a strict low-protein diet supplemented with essential amino acids, l-citrulline, and l-arginine as well as sodium benzoate. He had an extensive history of hospitalizations for hyper...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:JIMD Rep
Prif Awduron: Laemmle, Alexander, Stricker, Tamar, Häberle, Johannes
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Springer Berlin Heidelberg 2016
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC5388640/
https://ncbi.nlm.nih.gov/pubmed/27000017
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2016_551
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