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CDG syndrom
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Protein glycosylation disorders, (CDG syndrome): molecular and biochemical charakteristics of family with CDG type Ia
Publication without faculty affiliation
publication
Congenital disorders of glycosylation (CDG Syndrome) in fourteen children with psychomotor delay, hypotonia, strabismus and other various organ involvement
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Publication without faculty affiliation
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Phosphomannomutase 2 deficiency: clinical, biochemical and molecular analyses in 22 Czech patients
2018 |
First Faculty of Medicine
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Pompe disease, CDG syndrom
Publication without faculty affiliation
publication
Haematological complications in 9 patients with CDG syndrome type Ia
Publication without faculty affiliation
publication
Stroke-like episodes in Czech patients with CDG syndrome type IA
Publication without faculty affiliation
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Biochemical and molecular analyses in 8 children with CDG syndrome type I
Publication without faculty affiliation
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Liver and kidney involvement in 15 patients with CDG syndrome Type IA
Publication without faculty affiliation
publication
Clinical, biochemical and molecular analyses in 12 children with CDG syndrome
Publication without faculty affiliation
publication
Clinical and Molecular Analyses in Eight Children with Congenital Disorders of Glycosylation
2003 |
First Faculty of Medicine
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Activity of phosphomannomutase 2 in patients with suspected congenital disorder of glycosylation
2016 |
First Faculty of Medicine
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Girl with congenital disorder of glycosylation - case report
2009 |
First Faculty of Medicine
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Girl with congenital disorder of glycosylation - case report
2009 |
Publication without faculty affiliation
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Clinical and diagnostic approach in Congenital Disorders of Glycosylation type 2 transferrin pattern
2011 |
Faculty of Medicine in Hradec Králové