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Search for publications relevant for "alpha-galactosidase A"
alpha-galactosidase A
Publication
Class
Person
Publication
Programmes
publication
Replacement of alpha-galactosidase A in Fabry disease: effect on fibroblast cultures compared with biopsied tissues of treated patients
2008 |
First Faculty of Medicine
publication
Fabry Disease: Nine New Mutations in alpha-Galactosidase A Gene and Molecular Carrier Detection
2001 |
First Faculty of Medicine
publication
Fabry Disease: Ten New Mutations in alpha-Galactosidase A Gene and Molecular Carrier Detection
Publication without faculty affiliation
publication
Recurrence of Fabry disease as a result of paternal germline mosaicism for alpha-galactosidase A gene mutation
2005 |
First Faculty of Medicine
publication
Blood group B glycosphingolipids in alpha-galactosidase deficiency /Fabry disease/ - influence of secretor status
1997 |
Faculty of Physical Education and Sport
publication
Replacement of alpha-galactosidase A in Fabry disease: effect on fibroblast cultures compared with biopsied tissues of treated patients
2008 |
Publication without faculty affiliation
publication
Characterization of gana-I, a Caenorhabditis elegans gene encoding a single ortholog of vertebrate alpha-galactosidase and alpha-N-acetylgalactosaminidase
2005 |
First Faculty of Medicine
publication
Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the alpha-galactosidase A gene in the Czech and Slovak population
2005 |
First Faculty of Medicine
publication
Fabry disease - Vascular manifestations
2010 |
Third Faculty of Medicine
publication
The coincidence of IgA nephropathy and Fabry disease
2013 |
Faculty of Physical Education and Sport, First Faculty of Medicine
publication
Prevalence of Fabry disease in men with tinnitus and sensorineural hearing loss
2021 |
First Faculty of Medicine, Third Faculty of Medicine
publication
Fabry disease - more common than you think
2011 |
First Faculty of Medicine
publication
Fabry disease - an overview for a dermatologist
2017 |
First Faculty of Medicine
publication
Detection of infant faecal bifidobacteria by enzymatic methods
2005 |
Faculty of Physical Education and Sport, First Faculty of Medicine, Second Faculty of Medicine
publication
Fabry's disease from the point of view of nephrology
2015 |
First Faculty of Medicine
publication
Comparison of bacterial flora and enzymatic activity in faeces of infants and calves
2006 |
Second Faculty of Medicine
publication
Pitfalls of X-chromosome inactivation testing in females with Fabry disease
2022 |
First Faculty of Medicine
publication
Hearing loss in patients with Fabry disease
2023 |
Publication without faculty affiliation
publication
Study of urinary proteomes in Anderson-Fabry disease
2010 |
Faculty of Science, Faculty of Physical Education and Sport, First Faculty of Medicine
publication
Nationwide screening of Fabry disease in patients with hypertrophic cardiomyopathy in Czech Republic
2022 |
First Faculty of Medicine, Third Faculty of Medicine, Central Library of Charles University, Faculty of Medicine in Hradec Králové
publication
Evaluation of a low dose, after a standard therapeutic dose, of agalsidase beta during enzyme replacement therapy in patients with Fabry disease
2009 |
First Faculty of Medicine
publication
Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study
2023 |
First Faculty of Medicine
publication
Intravascular ultrasound assessment of coronary artery involvement in Fabry disease
2008 |
First Faculty of Medicine, Third Faculty of Medicine
publication
Fabry disease: Percutaneous transluminal septal myocardial ablation markedly improved symptomatic left ventricular hypertrophy and outflow tract obstruction in a classically affected male
2005 |
Faculty of Physical Education and Sport, First Faculty of Medicine
publication
Time to treatment benefit for adult patients with Fabry disease receiving agalsidase beta: Data from the Fabry Registry
2016 |
First Faculty of Medicine
publication
Characterization of Early Disease Status in Treatment-Naive Male Paediatric Patients with Fabry Disease Enrolled in a Randomized Clinical Trial
2015 |
First Faculty of Medicine
publication
DANON DISEASE: FURTHER CLINICAL AND MOLECULAR HETEROGENEITY
2009 |
First Faculty of Medicine
publication
Cardiac manifestations in Fabry´s Disease (2)
2001 |
First Faculty of Medicine
publication
Post-mortem Diagnosis of Fabry s Disease in a Female Heterozygote Leading to the Recognition of Undiagnosed Manifest Disease in the Family.
1999 |
Faculty of Physical Education and Sport
publication
Induction of extracellular glycosidases in filamentous fungi and their potential use in chemotaxonomy.
1999 |
First Faculty of Medicine, Faculty of Mathematics and Physics