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Expanding the clinical spectrum of 3-phosphoglycerate dehydrogenase deficiency

✍ Scribed by L. Tabatabaie; L. W. J. Klomp; M. E. Rubio-Gozalbo; L. J. M. Spaapen; A. A. M. Haagen; L. Dorland; T. J. de Koning


Publisher
Springer
Year
2010
Tongue
English
Weight
88 KB
Volume
34
Category
Article
ISSN
0141-8955

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Beneficial effects of L-serine and glyci
✍ Dr. Tom J. de Koning; Marinus Duran; Lambertus Dorland; Rob Gooskens; Emile van 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 435 KB

## Abstract 3‐Phosphoglycerate dehydrogenase (3‐PGDH) deficiency is an inborn error of serine biosynthesis. Patients are affected with congenital microcephaly, psychomotor retardation, and intractable seizures. The effects of oral treatment with amino acids were investigated in 2 siblings. L‐Serine