Primary Hyperoxaluria Type 1 with Homozygosity for a Double-mutated AGXT Allele in a 2-year-old Child

Primary hyperoxaluria (PH) Type 1 is a rare, genetic disorder caused by deficiency of the liver enzyme alanine-glyoxylate aminotransferase, which is encoded by AGXT gene. We report a 2-year-old South Indian Tamil child with nephrocalcinosis due to PH Type 1, in whom a homozygous genotype for two mis...

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Detalles Bibliográficos
Autores principales: Krishnamurthy, S., Kartha, G. B., Venkateswaran, V. S., Prasannakumar, M., Mahadevan, S., Gowda, M., Pelle, A., Giachino, D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5590421/
https://www.ncbi.nlm.nih.gov/pubmed/28904440
http://dx.doi.org/10.4103/ijn.IJN_261_16

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5590421/
https://www.ncbi.nlm.nih.gov/pubmed/28904440
http://dx.doi.org/10.4103/ijn.IJN_261_16

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