(Q34519568)

2 August 2017

Expanding the clinical spectrum of 3-phosphoglycerate dehydrogenase deficiency (English)

1 reference

2 August 2017

L Tabatabaie

1

1 reference

2 August 2017

L W J Klomp

2

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2 August 2017

M E Rubio-Gozalbo

3

1 reference

2 August 2017

L J M Spaapen

4

1 reference

2 August 2017

A A M Haagen

5

1 reference

2 August 2017

L Dorland

6

1 reference

2 August 2017

T J de Koning

7

1 reference

2 August 2017

27 November 2010

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Journal of Inherited Metabolic Disease

2 August 2017

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2 August 2017

34

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2 August 2017

181-184

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2 August 2017

1

1 reference

https://scigraph.springernature.com/pub.10.1007/s10545-010-9249-5

2 August 2017

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cites work

Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3026672

Treatment with amino acids in serine deficiency disorders

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3026672

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3026672

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3026672

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3026672

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3026672

3-phosphoglycerate dehydrogenase deficiency in a patient with West syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3026672

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3026672

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3026672

10.1007/S10545-010-9249-5

7 July 2018

Identifiers

DOI

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Dimensions Publication ID

2 August 2017

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1 reference

2 August 2017

1 reference