Fatal cerebral edema associated with serine deficiency in CSF

Two young girls without a notable medical history except for asthma presented with an acute toxic encephalopathy with very low serine concentrations both in plasma and cerebrospinal fluid (CSF) comparable to patients with 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency. Clinical symptoms and en...

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Bibliografske podrobnosti
Main Authors: Keularts, Irene M. L. W., Leroy, Piet L. J. M., Rubio-Gozalbo, Estela M., Spaapen, Leo J. M., Weber, Biene, Dorland, Bert, de Koning, Tom J., Verhoeven-Duif, Nanda M.
Format: Artigo
Jezik:Inglês
Izdano: Springer Netherlands 2010
Teme:
Case Report
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC3757259/
https://ncbi.nlm.nih.gov/pubmed/20300853
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-010-9067-9
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