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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...
Wedi'i Gadw mewn:
| Cyhoeddwyd yn: | JIMD Rep |
|---|---|
| Prif Awduron: | , , |
| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
Springer Berlin Heidelberg
2016
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| 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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