Treatment with amino acids in serine deficiency disorders (Q34536482)

2 August 2017

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title

Treatment with amino acids in serine deficiency disorders (English)

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2 August 2017

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T J de Koning

1

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2 August 2017

1 April 2006

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Journal of Inherited Metabolic Disease

2 August 2017

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2 August 2017

29

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2 August 2017

347-351

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2 August 2017

2-3

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https://scigraph.springernature.com/pub.10.1007/s10545-006-0269-0

2 August 2017

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cites work

Scott syndrome, a bleeding disorder caused by defective scrambling of membrane phospholipids

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10545-006-0269-0

Enzymes of serine metabolism in normal, developing and neoplastic rat tissues

21 January 2018

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12 December 2020

Autoantibodies to folate receptors in the cerebral folate deficiency syndrome.

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12 December 2020

Phosphoserine phosphatase deficiency in a patient with Williams syndrome

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12 December 2020

3-phosphoglycerate dehydrogenase deficiency in a patient with West syndrome

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12 December 2020

Phospholipid signaling in apoptosis: peroxidation and externalization of phosphatidylserine

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12 December 2020

Mutations responsible for 3-phosphoserine phosphatase deficiency

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12 December 2020

V490M, a common mutation in 3-phosphoglycerate dehydrogenase deficiency, causes enzyme deficiency by decreasing the yield of mature enzyme

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12 December 2020

D-serine is an endogenous ligand for the glycine site of the N-methyl-D-aspartate receptor

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12 December 2020

Characterization and localization of a human serine racemase

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12 December 2020

Kinetics of neutral amino acid transport across the blood-brain barrier.

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12 December 2020

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

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12 December 2020

Targeted disruption of the mouse 3-phosphoglycerate dehydrogenase gene causes severe neurodevelopmental defects and results in embryonic lethality

1 reference

12 December 2020

Congenital microcephaly and seizures due to 3-phosphoglycerate dehydrogenase deficiency: outcome of treatment with amino acids

1 reference

12 December 2020

Phenotypic heterogeneity and adverse effects of serine treatment in 3-phosphoglycerate dehydrogenase deficiency: report on two siblings

1 reference

12 December 2020

Serine-deficiency syndromes

1 reference

12 December 2020

3-Phosphoglycerate dehydrogenase deficiency: an inborn error of serine biosynthesis

1 reference

12 December 2020

Ceramide regulation of apoptosis versus differentiation: a walk on a fine line. Lessons from neurobiology

1 reference

12 December 2020

Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency--a neurometabolic disorder associated with reduced L-serine biosynthesis

1 reference

12 December 2020

Sphingolipid metabolites in neural signalling and function

1 reference

12 December 2020

Hypomyelination and reversible white matter attenuation in 3-phosphoglycerate dehydrogenase deficiency

1 reference

12 December 2020

Beneficial effects of L-serine and glycine in the management of seizures in 3-phosphoglycerate dehydrogenase deficiency

1 reference

12 December 2020

10.1007/S10545-006-0269-0

Identifiers

DOI

1 reference

PubMed ID

16763900

Dimensions Publication ID

2 August 2017

0 references

1 reference

PubMed ID

16763900