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...

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Detalles Bibliográficos
Autores principales: Baturina, O. A., Chernonosov, A. A., Koval, V. V., Morozov, I. V.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: A.I. Gordeyev 2019
Materias:
Research Article
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

Internet

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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