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Search for publications relevant for "congenital disorders of glycosylation (CDG)"
congenital disorders of glycosylation (CDG)
Publication
Class
Person
Publication
Programmes
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