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Congenital disorders of glycosylation
Publication
Class
Person
Publication
Programmes
publication
Congenital Disorders of Glycosylation: A Review
2016 |
Faculty of Medicine in Hradec Králové
publication
Congenital disorders of glycosylation: alpha-dystroglycanopathies
2017 |
First Faculty of Medicine
publication
Male patient with ALG13 associated congenital disorder of glycosylation
2021 |
Second Faculty of Medicine
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
Amniotic fluid alpha-fetoprotein microheterogeneity in the prenatal diagnosis of congenital disorders of glycosylation type Ia
2010 |
Faculty of Medicine in Hradec Králové
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
Congenital disorders of glycosylation: biochemical and molecular analyses
Publication without faculty affiliation
publication
Our Experience with Diagnostics of Congenital Disorders of Glycosylation
2004 |
First Faculty of Medicine
publication
Congenital disorders of glycosylation: Still "hot" in 2020
2021 |
First Faculty of Medicine
publication
Clinical and diagnostic approach in Congenital Disorders of Glycosylation type 2 transferrin pattern
2011 |
Faculty of Medicine in Hradec Králové
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
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
Screening and diagnostics of congenital disorders of glycosylation
+2
Publication without faculty affiliation
publication
Our Experience with Diagnostics of Congenital Disorders of Glycosylation
2004 |
Faculty of Medicine in Hradec Králové, Central Library of Charles University
publication
HPLC in diagnostics of congenital disorders of glycosylation
Publication without faculty affiliation
publication
Congenital disorders of glycosylation, case report
Publication without faculty affiliation
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
Mutation of Nogo-B Receptor, a Subunit of cis-Prenyltransferase, Causes a Congenital Disorder of Glycosylation
2014 |
First Faculty of Medicine
publication
Screening methods in the diagnostics of congenital disorders of glycosylation - our experiences
Publication without faculty affiliation