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CDG
Publication
Class
Person
Publication
Programmes
publication
A new case of ALG8 deficiency (CDG Ih)
2009 |
First Faculty of Medicine, Third Faculty of Medicine
publication
Methodic Guide to Diagnostics of Congenital Disorders of Glycosylation (CDG)
2003 |
First Faculty of Medicine
publication
Protein glycosylation disorders, (CDG syndrome): molecular and biochemical charakteristics of family with CDG type Ia
Publication without faculty affiliation
publication
Methodic Guide to Diagnostics of Congenital Disorders of Glycosylation (CDG)
2003 |
Faculty of Medicine in Hradec Králové
publication
Activity of phosphomannomutase 2 in patients with suspected congenital disorder of glycosylation
2016 |
First Faculty of Medicine
publication
Transferrin D Protein Variants in the Diagnosis of Congenital Disorders of Glycosylation (CDG)
+1
2009 |
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
Publication without faculty affiliation
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
Screening and diagnosis of congenital disorders of glycosylation
2007 |
Publication without faculty affiliation
publication
Screening and diagnosis of congenital disorders of glycosylation
2007 |
First Faculty of Medicine
publication
CDG: a new case of a combined defect in the biosynthesis of N- and O-glycans
2006 |
Faculty of Medicine in Hradec Králové, Central Library of Charles University
publication
Phosphomannomutase 2 deficiency: clinical, biochemical and molecular analyses in 22 Czech patients
2018 |
First Faculty of Medicine
publication
A new role for dolichol isoform profile in the diagnostics of CDG disorders
2020 |
First Faculty of Medicine
publication
Congenital Disorders of Glycosylation (CDG)
2001 |
Faculty of Medicine in Hradec Králové
publication
Pompe disease, CDG syndrom
Publication without faculty affiliation
publication
Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I
2011 |
First Faculty of Medicine
publication
Transferrin D Protein Variants in the Diagnosis of Congenital Disorders of Glycosylation (CDG)
2009 |
First Faculty of Medicine
publication
Carbohydrate-Deficient Glycoprotein Syndrome /CDGS/
Publication without faculty affiliation
publication
Difficulties with the molecular diagnostics of patient with CDG la syndrome
Publication without faculty affiliation
publication
Unexpencted results of molecular diagnostics in a patient with CDG la syndrome
Publication without faculty affiliation
publication
Some clinical and laboratory aspects of CDG screening in children and adults
+1
Publication without faculty affiliation
publication
Haematological complications in 9 patients with CDG syndrome type Ia
Publication without faculty affiliation
publication
Iffy problems in molecular diagnostics in a patient with CDG la syndrome
Publication without faculty affiliation
publication
Stroke-like episodes in Czech patients with CDG syndrome type IA
Publication without faculty affiliation
publication
Problémy s DNA diagnostikou u pacitenta s CDG la syndromem... '' i krev může mít svá tajemství''
Publication without faculty affiliation
publication
Congenital Disorders of Glycosylation: A Review
2016 |
Faculty of Medicine in Hradec Králové
publication
Biochemical and molecular analyses in 8 children with CDG syndrome type I
Publication without faculty affiliation