Treatment with amino acids in serine deficiency disorders
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/s10545-006-0269-0
Reference22 articles.
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2. de Koning TJ, Klomp LWJ (2004) Serine deficiency syndromes. Curr Opin Neurol 17: 197–204.
3. de Koning TJ, Duran M, Dorland L, et al (1998) Beneficial effects of l-serine and glycine in the management of seizures in 3-phosphoglycerate dehydrogenase deficiency. Ann Neurol 44: 261–265.
4. de Koning TJ, Jaeken J, Pineda M, Van Maldergem L, Poll-The BT, van der Knaap MS (2000) Hypomyelination and reversible white matter attenuation in 3-phosphoglycerate dehydrogenase deficiency. Neuropediatrics 31: 287–292.
5. de Koning TJ, Duran M, Van Maldergem L, et al (2002) Congenital microcephaly and seizures due to 3-phosphoglycerate dehydrogenase deficiency: outcome of treatment with amino acids. J Inherit Metab Dis 25: 119–125.
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