(Q50503545)

English

A novel congenital disorder of glycosylation type without central nervous system involvement caused by mutations in the phosphoglucomutase 1 gene.

scientific article published on 14 September 2012

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scholarly article

1 reference

Europe PubMed Central

14 March 2018

http://europepmc.org/abstract/MED/22976764

A novel congenital disorder of glycosylation type without central nervous system involvement caused by mutations in the phosphoglucomutase 1 gene. (English)

1 reference

Europe PubMed Central

14 March 2018

http://europepmc.org/abstract/MED/22976764

1 reference

based on heuristic

inferred from title

congenital disorder

1 reference

based on heuristic

inferred from title

congenital disorder

1 reference

based on heuristic

inferred from title

congenital disorder of glycosylation

1 reference

based on heuristic

inferred from title

2

1 reference

Europe PubMed Central

14 March 2018

http://europepmc.org/abstract/MED/22976764

author name string

Belén Pérez

1

1 reference

Europe PubMed Central

14 March 2018

http://europepmc.org/abstract/MED/22976764

Maria Jesus Ecay

3

1 reference

Europe PubMed Central

14 March 2018

http://europepmc.org/abstract/MED/22976764

Pedro Ruiz-Sala

4

1 reference

Europe PubMed Central

14 March 2018

http://europepmc.org/abstract/MED/22976764

Mercedes Martínez-Pardo

5

1 reference

Europe PubMed Central

14 March 2018

http://europepmc.org/abstract/MED/22976764

Magdalena Ugarte

6

1 reference

Europe PubMed Central

14 March 2018

http://europepmc.org/abstract/MED/22976764

Celia Pérez-Cerdá

7

1 reference

Europe PubMed Central

14 March 2018

http://europepmc.org/abstract/MED/22976764

publication date

14 September 2012

1 reference

Europe PubMed Central

14 March 2018

http://europepmc.org/abstract/MED/22976764

Journal of Inherited Metabolic Disease

1 reference

Europe PubMed Central

14 March 2018

http://europepmc.org/abstract/MED/22976764

36

1 reference

Europe PubMed Central

14 March 2018

http://europepmc.org/abstract/MED/22976764

3

1 reference

Europe PubMed Central

14 March 2018

http://europepmc.org/abstract/MED/22976764

535-542

1 reference

Europe PubMed Central

14 March 2018

http://europepmc.org/abstract/MED/22976764

https://scigraph.springernature.com/pub.10.1007/s10545-012-9525-7

0 references

Proteasomal inhibition restores biological function of mis-sense mutated dysferlin in patient-derived muscle cells

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9525-7

21 January 2018

Functional analysis of mutations in UDP-galactose-4-epimerase (GALE) associated with galactosemia in Korean patients using mammalian GALE-null cells

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9525-7

21 January 2018

Metabolic manipulation of glycosylation disorders in humans and animal models

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9525-7

21 January 2018

Plasma N-glycan profiling by mass spectrometry for congenital disorders of glycosylation type II.

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9525-7

21 January 2018

Congenital disorders of glycosylation

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9525-7

21 January 2018

GALT deficiency causes UDP-hexose deficit in human galactosemic cells

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9525-7

21 January 2018

How to find and diagnose a CDG due to defective N-glycosylation

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9525-7

21 January 2018

Mass spectrometric analysis of glycans in elucidating the pathogenesis of CDG type IIx .

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9525-7

21 January 2018

CDG - an update

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9525-7

21 January 2018

Analysis of protein glycosylation by mass spectrometry

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9525-7

21 January 2018

Phosphoglucomutase 1: a gene with two promoters and a duplicated first exon

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9525-7

21 January 2018

Propionic and methylmalonic acidemia: antisense therapeutics for intronic variations causing aberrantly spliced messenger RNA

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9525-7

21 January 2018

Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia.

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9525-7

21 January 2018

Apolipoprotein C-III isofocusing in the diagnosis of genetic defects in O-glycan biosynthesis

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9525-7

21 January 2018

Muscle glycogenosis due to phosphoglucomutase 1 deficiency

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9525-7

21 January 2018

Screening Using Serum Percentage of Carbohydrate-Deficient Transferrin for Congenital Disorders of Glycosylation in Children with Suspected Metabolic Disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/22976764

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I

1 reference

https://pubmed.ncbi.nlm.nih.gov/22976764

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Functional analysis of PCCB mutations causing propionic acidemia based on expression studies in deficient human skin fibroblasts.

1 reference

https://pubmed.ncbi.nlm.nih.gov/22976764

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S10545-012-9525-7

1 reference

Europe PubMed Central

14 March 2018

http://europepmc.org/abstract/MED/22976764

1 reference

Europe PubMed Central

14 March 2018

http://europepmc.org/abstract/MED/22976764

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