(Q41920948)

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Infantile Serine Biosynthesis Defect Due to Phosphoglycerate Dehydrogenase Deficiency: Variability in Phenotype and Treatment Response, Novel Mutations, and Diagnostic Challenges.

scientific article published on January 2017

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28135894%20AND%20SRC:MED&resulttype=core&format=json

10 April 2020

Infantile Serine Biosynthesis Defect Due to Phosphoglycerate Dehydrogenase Deficiency: Variability in Phenotype and Treatment Response, Novel Mutations, and Diagnostic Challenges (English)

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28135894%20AND%20SRC:MED&resulttype=core&format=json

10 April 2020

2

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28135894%20AND%20SRC:MED&resulttype=core&format=json

10 April 2020

4

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28135894%20AND%20SRC:MED&resulttype=core&format=json

10 April 2020

Ayman El-Hattab

7

object named as

Ayman W El-Hattab

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Europe PubMed Central

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10 April 2020

author name string

Paul J Benke

1

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10 April 2020

Bruce H Braffman

3

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10 April 2020

Koen L I van Gassen

5

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10 April 2020

Rawda Sunbul

6

1 reference

Europe PubMed Central

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10 April 2020

publication date

31 January 2017

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10 April 2020

Journal of Child Neurology

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10 April 2020

32

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10 April 2020

6

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10 April 2020

543-549

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10 April 2020

An update on serine deficiency disorders

1 reference

https://api.crossref.org/works/10.1177%2F0883073817690094

21 January 2018

Serine biosynthesis and transport defects

1 reference

https://api.crossref.org/works/10.1177%2F0883073817690094

21 January 2018

Novel neuroglial and glioglial relationships mediated by L-serine metabolism

1 reference

https://api.crossref.org/works/10.1177%2F0883073817690094

21 January 2018

L-Serine Deficiency Elicits Intracellular Accumulation of Cytotoxic Deoxysphingolipids and Lipid Body Formation

1 reference

https://api.crossref.org/works/10.1177%2F0883073817690094

21 January 2018

On the phenotypic spectrum of serine biosynthesis defects

1 reference

https://api.crossref.org/works/10.1177%2F0883073817690094

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1177%2F0883073817690094

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1177%2F0883073817690094

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1177%2F0883073817690094

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1177%2F0883073817690094

21 January 2018

3-phosphoglycerate dehydrogenase deficiency in a patient with West syndrome

1 reference

https://api.crossref.org/works/10.1177%2F0883073817690094

21 January 2018

Two new cases of serine deficiency disorders treated with l-serine

1 reference

https://api.crossref.org/works/10.1177%2F0883073817690094

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1177%2F0883073817690094

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1177%2F0883073817690094

21 January 2018

What syndrome is this? Neu-Laxova syndrome

1 reference

https://api.crossref.org/works/10.1177%2F0883073817690094

21 January 2018

Neu-Laxova syndrome: pathological evaluation of a fetus and review of the literature

1 reference

https://api.crossref.org/works/10.1177%2F0883073817690094

21 January 2018

Neu-Laxova syndrome: detailed prenatal diagnostic and post-mortem findings and literature review.

1 reference

https://api.crossref.org/works/10.1177%2F0883073817690094

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1177%2F0883073817690094

21 January 2018

Expanding the clinical spectrum of 3-phosphoglycerate dehydrogenase deficiency

1 reference

https://api.crossref.org/works/10.1177%2F0883073817690094

21 January 2018

Evidence report: Genetic and metabolic testing on children with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society.

1 reference

https://api.crossref.org/works/10.1177%2F0883073817690094

21 January 2018

Comprehensive evaluation of the child with intellectual disability or global developmental delays

1 reference

https://api.crossref.org/works/10.1177%2F0883073817690094

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1177%2F0883073817690094

21 January 2018

Identifiers

10.1177/0883073817690094

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28135894%20AND%20SRC:MED&resulttype=core&format=json

10 April 2020

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28135894%20AND%20SRC:MED&resulttype=core&format=json

10 April 2020

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