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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...
| Autores principales: | , , , , , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
Springer Netherlands
2010
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| Materias: | |
| 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 |