Phosphoserine phosphatase deficiency in a patient with Williams syndrome (Q24517932)

2 July 2017

Phosphoserine phosphatase deficiency in a patient with Williams syndrome (English)

1 reference

2 July 2017

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J Jaeken

1

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2 July 2017

M Detheux

2

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2 July 2017

J P Fryns

3

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2 July 2017

J F Collet

4

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2 July 2017

P Alliet

5

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2 July 2017

E Van Schaftingen

6

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2 July 2017

language of work or name

English

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publication date

1 July 1997

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Journal of Medical Genetics

2 July 2017

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2 July 2017

34

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2 July 2017

594-596

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2 July 2017

7

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

2 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051004

The enzymatic exchange of L-serine with O-phospho-L-serine catalyzed by a specific phosphatase

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051004

The human phosphoserine phosphatase gene (<i>PSP</i>) is mapped to chromosome 7 by somatic cell genetic analysis

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051004

Assignment of the human phosphoserine phosphatase gene (<i>PSP</i>) to the pter→q22 region of chromosome 7

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051004

Genetical and biochemical studies on human phosphoserine phosphatase

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051004

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051004

Gene dosage studies regionally assign the phosphoserine phosphatase gene to 7p15.1 or 2

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051004

Gene dosage effect in acquired monosomy 7: distinct behaviour of beta-glucuronidase and phosphoserine phosphatase

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051004

Natural history of Williams syndrome: physical characteristics

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051004

Synthesis and purification of [1-32P]fructose-1,6-bisphosphate with high specific radioactivity

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051004

Phosphoserine phosphatase distribution in normal and neoplastic rat tissues.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051004

The reactions of the phosphorylated pathway of L-serine biosynthesis: thermodynamic relationships in rabbit liver in vivo

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051004

Supravalvular aortic stenosis.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051004

Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051004

Enzymes of serine metabolism in normal and neoplastic rat tissues

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9222972

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.34.7.594

1 reference

2 July 2017

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