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Prenatal and early postnatal treatment in 3-phosphoglycerate-dehydrogenase deficiency

✍ Scribed by TJ de Koning; LWJ Klomp; ACC van Oppen; FA Beemer; L Dorland; IET van den Berg; R Berger

Book ID
117287523
Publisher
The Lancet
Year
2004
Tongue
English
Weight
139 KB
Volume
364
Category
Article
ISSN
0140-6736

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πŸ“œ SIMILAR VOLUMES

Beneficial effects of L-serine and glyci
Beneficial effects of L-serine and glycine in the management of seizures in 3-phosphoglycerate dehydrogenase deficiency
✍ Dr. Tom J. de Koning; Marinus Duran; Lambertus Dorland; Rob Gooskens; Emile van πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 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