ℹ️
🇬🇧
Search
Search for publications relevant for "congenital disorders of glycosylation (CDG)"
congenital disorders of glycosylation (CDG)
Publication
Class
Person
Publication
Programmes
Export current view
publication
Congenital Disorders of Glycosylation (CDG)
2001 |
Faculty of Medicine in Hradec Králové
publication
Transferrin D Protein Variants in the Diagnosis of Congenital Disorders of Glycosylation (CDG)
+1
2009 |
Faculty of Medicine in Hradec Králové
publication
Transferrin D Protein Variants in the Diagnosis of Congenital Disorders of Glycosylation (CDG)
2009 |
First Faculty of Medicine
publication
Methodic Guide to Diagnostics of Congenital Disorders of Glycosylation (CDG)
2003 |
Faculty of Medicine in Hradec Králové
publication
Methodic Guide to Diagnostics of Congenital Disorders of Glycosylation (CDG)
2003 |
First Faculty of Medicine
publication
Congenital Disorders of Glycosylation: A Review
2016 |
Faculty of Medicine in Hradec Králové
publication
Congenital disorders of glycosylation (CDG Syndrome) in fourteen children with psychomotor delay, hypotonia, strabismus and other various organ involvement
+1
Publication without faculty affiliation
publication
Activity of phosphomannomutase 2 in patients with suspected congenital disorder of glycosylation
2016 |
First Faculty of Medicine
publication
Elevated oxysterol and N-palmitoyl-O-phosphocholineserine levels in congenital disorders of glycosylation
2023 |
First Faculty of Medicine
publication
Screening and diagnosis of congenital disorders of glycosylation
2007 |
Publication without faculty affiliation
publication
Screening and diagnosis of congenital disorders of glycosylation
+1
2007 |
Faculty of Medicine in Hradec Králové
publication
Screening and diagnosis of congenital disorders of glycosylation
2007 |
First Faculty of Medicine
publication
Genetic variants of transferrin in the diagnostics of proteins hypoglycosylation
2005 |
First Faculty of Medicine
publication
Genetic variants of transferrin in cystic fibrosis
+1
2008 |
Faculty of Medicine in Hradec Králové
publication
Genetic variants of transferrin in cystic fibrosis
2008 |
First Faculty of Medicine
publication
Girl with congenital disorder of glycosylation - case report
2009 |
First Faculty of Medicine
publication
Girl with congenital disorder of glycosylation - case report
2009 |
Publication without faculty affiliation
publication
Amniotic fluid alpha-fetoprotein microheterogeneity in the prenatal diagnosis of congenital disorders of glycosylation type Ia
2010 |
Faculty of Medicine in Hradec Králové
publication
Genetic variants of transferrin in cystic fibrosis
2008 |
Second Faculty of Medicine
publication
Congenital disorders of glycosylation: Still "hot" in 2020
2021 |
First Faculty of Medicine
publication
The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG
2019 |
First Faculty of Medicine
publication
Severe phenotype of ATP6AP1-CDG in two siblings with a novel mutation leading to a differential tissue-specific ATP6AP1 protein pattern, cellular oxidative stress and hepatic copper accumulation
2020 |
First Faculty of Medicine
publication
Inherited disorders of carbohydrate metabolism
2023 |
First Faculty of Medicine
publication
Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I
2011 |
First Faculty of Medicine
publication
Long-term follow-up in PMM2-CDG: are we ready to start treatment trials?
2019 |
First Faculty of Medicine
publication
A new role for dolichol isoform profile in the diagnostics of CDG disorders
2020 |
First Faculty of Medicine