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Assessment of the Phenylketonuria (PKU)-Associated Mutation p.R155H Biochemical Manifestations by Mass Spectrometry-Based Blood Metabolite Profiling
Homozygous siblings with different treatment histories represent an excellent model to study both the phenotypic manifestation of mutations and the efficacy of therapy. We compared phenylketonuria (PKU) manifestations in two different gender siblings who were homozygous carriers of a rare phenylalan...
Autores principales: | Baturina, O. A., Chernonosov, A. A., Koval, V. V., Morozov, I. V. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
A.I. Gordeyev
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6643343/ https://www.ncbi.nlm.nih.gov/pubmed/31413878 http://dx.doi.org/10.32607/20758251-2019-11-2-42-46 |
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