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Glycogen storage
Publication
Class
Person
Publication
Programmes
publication
Aberrant apolipoprotein C-III glycosylation in glycogen storage disease type III and IX
2018 |
First Faculty of Medicine
publication
Identification of three novel mutations in the PHKA2 gene in Czech patients with X-linked liver glycogen storage disease type IX
Publication without faculty affiliation
publication
Glycogen storage disease-like phenotype with central nervous system involvement in a PGM1-CDG patient
2014 |
First Faculty of Medicine
publication
Metabolic myopathies
2022 |
First Faculty of Medicine
publication
Variable X-chromosome inactivation and enlargement of pericentral glutamine synthetase zones in the liver of heterozygous females with OTC deficiency
2018 |
First Faculty of Medicine, Central Library of Charles University
publication
Liver transplantation for adenomatosis: European experience
2016 |
Central Library of Charles University
publication
Methods for a prompt and reliable laboratory diagnosis of Pompe disease: Report from an international consensus meeting
2008 |
First Faculty of Medicine
publication
Bioinformatic and biochemical studies point to AAGR-1 as the ortholog of human acid alpha-glucosidase in Caenorhabditis elegans
2010 |
First Faculty of Medicine
publication
Glycogenosis III and diabetes in young female. Case history
2006 |
Faculty of Medicine in Pilsen
publication
Glycogenosis III and diabetes in young female. Case history
2006 |
First Faculty of Medicine, Faculty of Medicine in Pilsen
publication
Hepatoblastoma, etiology, case reports
2016 |
Second Faculty of Medicine
publication
Common presentation of rare diseases: Left ventricular hypertrophy and diastolic dysfunction
2018 |
First Faculty of Medicine
publication
Pampe disease as seen by a pediatric cardiologist
2012 |
Second Faculty of Medicine
publication
Lactosylceramide in lysosomal storage disorders. A comparative immunohistochemical and biochemical study
2005 |
First Faculty of Medicine
publication
Alteration in glucose homeostasis and persistence of the pancreatic clock in aged mPer2(Luc) mice
2018 |
Faculty of Science
publication
Intact transferrin and total plasma glycoprofiling for diagnosis and therapy monitoring in phosphoglucomutase-I deficiency
2018 |
First Faculty of Medicine
publication
Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease
2023 |
First Faculty of Medicine, Second Faculty of Medicine, Central Library of Charles University, Third Faculty of Medicine