(Q36590998)

15 August 2017

0 references

Novel Mutations in the PC Gene in Patients with Type B Pyruvate Carboxylase Deficiency (English)

1 reference

15 August 2017

Lisbeth Birk Møller

3

0 references

Didem Aliefendioğlu

6

object named as

Didem Aliefendioglu

1 reference

15 August 2017

Elsebet Ostergaard

1

1 reference

15 August 2017

Morten Duno

2

1 reference

15 August 2017

H Serap Kalkanoglu-Sivri

4

1 reference

15 August 2017

Ali Dursun

5

1 reference

15 August 2017

Helle Leth

7

1 reference

15 August 2017

Marianne Dahl

8

1 reference

15 August 2017

Ernst Christensen

9

1 reference

15 August 2017

Flemming Wibrand

10

1 reference

15 August 2017

31 August 2012

1 reference

Journal of Inherited Metabolic Disorders Reports

15 August 2017

1 reference

15 August 2017

9

1 reference

15 August 2017

1-5

1 reference

Pyruvate carboxylase deficiency: mechanisms, mimics and anaplerosis

15 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565670

Human branch point consensus sequence is yUnAy

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565670

Analysis of molecular masses and oligomeric states of protein complexes by blue native electrophoresis and isolation of membrane protein complexes by two-dimensional native electrophoresis

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565670

Blue native polyacrylamide gel electrophoresis and the monitoring of malate- and oxaloacetate-producing enzymes.

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565670

Intron retention and frameshift mutations result in severe pyruvate carboxylase deficiency in two male siblings

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565670

Amerindian pyruvate carboxylase deficiency is associated with two distinct missense mutations

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565670

Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency.

30 September 2017

1 reference

Crossref

https://api.crossref.org/works/10.1007%2F8904_2012_173

Molecular characterization of pyruvate carboxylase deficiency in two consanguineous families.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2F8904_2012_173

Studies on pyruvate carboxylase from cultured human fibroblasts and amniotic fluid cells

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23430542

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/8904_2012_173

1 reference

15 August 2017

1 reference

15 August 2017

PubMed publication ID

23430542

1 reference