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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Tabatabaie, L., Klomp, L. W. J., Rubio-Gozalbo, M. E., Spaapen, L. J. M., Haagen, A. A. M., Dorland, L., de Koning, T. J.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Springer Netherlands 2010
Gaiak:
Original Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC3026672/
https://ncbi.nlm.nih.gov/pubmed/21113737
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-010-9249-5
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