Treatment with amino acids in serine deficiency disorders

scientific article

Treatment with amino acids in serine deficiency disorders is …
instance of (P31):
review articleQ7318358
scholarly articleQ13442814

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P6179Dimensions Publication ID1031341215
P356DOI10.1007/S10545-006-0269-0
P698PubMed publication ID16763900

P2093author name stringT J de Koning
P2860cites workBeneficial effects of L-serine and glycine in the management of seizures in 3-phosphoglycerate dehydrogenase deficiencyQ41926212
Targeted disruption of the mouse 3-phosphoglycerate dehydrogenase gene causes severe neurodevelopmental defects and results in embryonic lethalityQ44674034
Kinetics of neutral amino acid transport across the blood-brain barrierQ48186517
Sphingolipid metabolites in neural signalling and functionQ81077831
Phospholipid signaling in apoptosis: peroxidation and externalization of phosphatidylserineQ23923989
Characterization and localization of a human serine racemaseQ24296479
Mutations responsible for 3-phosphoserine phosphatase deficiencyQ24301799
3-Phosphoglycerate dehydrogenase deficiency: an inborn error of serine biosynthesisQ24316377
Phosphoserine phosphatase deficiency in a patient with Williams syndromeQ24517932
Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency--a neurometabolic disorder associated with reduced L-serine biosynthesisQ24538921
D-serine is an endogenous ligand for the glycine site of the N-methyl-D-aspartate receptorQ24675924
Enzymes of serine metabolism in normal, developing and neoplastic rat tissuesQ28259473
3-phosphoglycerate dehydrogenase deficiency in a patient with West syndromeQ33921711
V490M, a common mutation in 3-phosphoglycerate dehydrogenase deficiency, causes enzyme deficiency by decreasing the yield of mature enzymeQ34105963
Prenatal and early postnatal treatment in 3-phosphoglycerate-dehydrogenase deficiencyQ34378259
Autoantibodies to folate receptors in the cerebral folate deficiency syndrome.Q34418174
Ceramide regulation of apoptosis versus differentiation: a walk on a fine line. Lessons from neurobiologyQ34955724
Serine-deficiency syndromesQ35691381
Scott syndrome, a bleeding disorder caused by defective scrambling of membrane phospholipidsQ35784910
Congenital microcephaly and seizures due to 3-phosphoglycerate dehydrogenase deficiency: outcome of treatment with amino acidsQ41922766
Phenotypic heterogeneity and adverse effects of serine treatment in 3-phosphoglycerate dehydrogenase deficiency: report on two siblingsQ41923426
Hypomyelination and reversible white matter attenuation in 3-phosphoglycerate dehydrogenase deficiencyQ41923480
P433issue2-3
P921main subjectserine deficiencyQ18553425
P304page(s)347-351
P577publication date2006-04-01
P1433published inJournal of Inherited Metabolic DiseaseQ6295359
P1476titleTreatment with amino acids in serine deficiency disorders
P478volume29