PPA1 Deficiency Causes a Deranged Galactose Metabolism Recognizable in Neonatal Screening

Two siblings showed increased galactose and galactose-related metabolites in neonatal screening. Diagnostic workup did not reveal abnormalities in any of the known disease-causing enzymes involved in galactose metabolism. Using whole-exome sequencing, we identified a homozygous missense variant in P...

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Detalles Bibliográficos
Autores principales: Achleitner, Melanie T., Jans, Judith J. M., Ebner, Laura, Spenger, Johannes, Konstantopoulou, Vassiliki, Feichtinger, René G., Brugger, Karin, Mayr, Doris, Wevers, Ron A., Thiel, Christian, Wortmann, Saskia B., Mayr, Johannes A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10673274/
https://www.ncbi.nlm.nih.gov/pubmed/37999237
http://dx.doi.org/10.3390/metabo13111141

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10673274/
https://www.ncbi.nlm.nih.gov/pubmed/37999237
http://dx.doi.org/10.3390/metabo13111141

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