3-phosphoglycerate dehydrogenase deficiency: a case report of a treatable cause of seizures
Serine deficiency disorders are a new group of neurometabolic diseases resulting from a deficiency in one of the three enzymes in the biosynthetic pathway of L-serine. Deficiency of the enzyme 3-phosphoglycerate dehydrogenase (3-PGDH), which catalyzes the first step in the biosynthetic pathwa...
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| Main Authors: | Turgay Coşkun, Halil Ibrahim Aydin, Mustafa Kiliç, Ali Dursun, Göknur Haliloğlu, Haluk Topaloğlu, Kader Karli-Oğuz, Tom J De Koning |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Hacettepe University Institute of Child Health
2009-12-01
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| Series: | The Turkish Journal of Pediatrics |
| Online Access: | https://turkjpediatr.org/article/view/2362 |
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