Expanding the clinical spectrum of 3-phosphoglycerate dehydrogenase deficiency

3-Phosphoglycerate dehydrogenase (3-PGDH) deficiency is considered to be a rare cause of congenital microcephaly, infantile onset of intractable seizures and severe psychomotor retardation. Here, we report for the first time a very mild form of genetically confirmed 3-PGDH deficiency in two siblings...

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Detalles Bibliográficos
Autores principales: Tabatabaie, L., Klomp, L. W. J., Rubio-Gozalbo, M. E., Spaapen, L. J. M., Haagen, A. A. M., Dorland, L., de Koning, T. J.
Formato: Texto
Lenguaje:English
Publicado: Springer Netherlands 2010
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3026672/
https://www.ncbi.nlm.nih.gov/pubmed/21113737
http://dx.doi.org/10.1007/s10545-010-9249-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3026672/
https://www.ncbi.nlm.nih.gov/pubmed/21113737
http://dx.doi.org/10.1007/s10545-010-9249-5

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