An update on serine deficiency disorders (Q41932509)

14 October 2017

An update on serine deficiency disorders (English)

1 reference

14 October 2017

1 reference

S N van der Crabben

1

1 reference

14 October 2017

N M Verhoeven-Duif

2

1 reference

14 October 2017

E H Brilstra

3

1 reference

14 October 2017

L Van Maldergem

4

1 reference

14 October 2017

T Coskun

5

1 reference

14 October 2017

E Rubio-Gozalbo

6

1 reference

14 October 2017

R Berger

7

1 reference

14 October 2017

T J de Koning

8

1 reference

14 October 2017

6 March 2013

1 reference

Journal of Inherited Metabolic Disease

14 October 2017

1 reference

14 October 2017

36

1 reference

14 October 2017

613-619

1 reference

14 October 2017

4

1 reference

https://scigraph.springernature.com/pub.10.1007/s10545-013-9592-4

14 October 2017

0 references

cites work

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

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9592-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9592-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9592-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9592-4

Phosphoserine aminotransferase deficiency: a novel disorder of the serine biosynthesis pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9592-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9592-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9592-4

Phosphoserine phosphatase deficiency in a patient with Williams syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9592-4

Fatal cerebral edema associated with serine deficiency in CSF.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9592-4

A serine synthesis defect presenting with a Charcot-Marie-Tooth-like polyneuropathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9592-4

Multicentre age-related reference intervals for cerebrospinal fluid serine concentrations: implications for the diagnosis and follow-up of serine biosynthesis disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9592-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9592-4

3-phosphoglycerate dehydrogenase deficiency in a patient with West syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9592-4

Cerebrospinal fluid and plasma total homocysteine and related metabolites in children with cystathionine beta-synthase deficiency: the effect of treatment

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9592-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9592-4

Expanding the clinical spectrum of 3-phosphoglycerate dehydrogenase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9592-4

Mutations responsible for 3-phosphoserine phosphatase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9592-4

A sensitive and simple ultra-high-performance-liquid chromatography-tandem mass spectrometry based method for the quantification of D-amino acids in body fluids

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23463425

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

3-Phosphoglycerate dehydrogenase deficiency and 3-phosphoserine phosphatase deficiency: inborn errors of serine biosynthesis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23463425

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S10545-013-9592-4

1 reference

Dimensions Publication ID

14 October 2017

0 references

1 reference