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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Tabatabaie, L., Klomp, L. W. J., Rubio-Gozalbo, M. E., Spaapen, L. J. M., Haagen, A. A. M., Dorland, L., de Koning, T. J.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Springer Netherlands 2010
Pynciau:
Original Article
Mynediad Ar-lein: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
Tagiau: Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!

Eitemau Tebyg