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mucopolysaccharidosis
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Stomatological Problems in Child with the II Type Mucopolysaccharidosis
2013 |
Faculty of Medicine in Pilsen
publication
Occipitocervical stabilization using bilateral laminar C2 screws in children with mucopolysaccharidosis IVA
2015 |
First Faculty of Medicine, Third Faculty of Medicine
publication
Mucopolysaccharidosis I – clinical manifestations in 24 children from the Czech Republic and Slovakia
2011 |
First Faculty of Medicine
publication
Neuroinflammation, mitochondrial defects and neurodegeneration in mucopolysaccharidosis III type C mouse model
2015 |
First Faculty of Medicine
publication
Easy-to-use algorithm would provide faster diagnoses for mucopolysaccharidosis type I and enable patients to receive earlier treatment
2018 |
First Faculty of Medicine
publication
Late diagnosis of mucopolysaccharidosis type I in a girl with hand contractures
2023 |
First Faculty of Medicine
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Otorhinolaryngological manifestations in 61 patients with mucopolysaccharidosis
2020 |
First Faculty of Medicine, Second Faculty of Medicine
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International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcome
2018 |
First Faculty of Medicine
publication
Mucopolysaccharidosis I - clinical manifestations in 24 children from the Czech Republic and Slovakia
2011 |
Second Faculty of Medicine
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Genotype-phenotype correlation in 44 Czech, Slovak, Croatian and Serbian patients with mucopolysaccharidosis type II
2017 |
First Faculty of Medicine
publication
Attenuated osteoarticular phenotype of type VI mucopolysaccharidosis: a report of four patients and a review of the literature
2014 |
First Faculty of Medicine
publication
Mucopolysaccharidosis in the MR Imaging and Its Contribution to Further Clinical Treatment of the Patients
2005 |
First Faculty of Medicine
publication
Combined valve replacement and aortocoronary bypass in an adult mucopolysaccharidosis type VII patient
2021 |
First Faculty of Medicine, Third Faculty of Medicine
publication
Mucopolysaccharidosis type I-S in siblings
Publication without faculty affiliation
publication
Consensus statement on enzyme replacement therapy for mucopolysaccharidosis IVA in Central and South-Eastern European countries
2022 |
First Faculty of Medicine
publication
Mucopolysaccharidosis type II (Hunter disease): Biochemical postnatal and prenatal diagnosis
Publication without faculty affiliation
publication
X-Chromosome Inactivation Analysis in Different Cell Types and Induced Pluripotent Stem Cells Elucidates the Disease Mechanism in a Rare Case of Mucopolysaccharidosis Type II in a Female
2016 |
First Faculty of Medicine
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Mucopolysaccharidosis in Czech and Slovak Republic. A spectrum of clinical manifestation and optimum diagnosic scheme
Publication without faculty affiliation
publication
Fetal Pathology of Fabry Disease and Mucopolysaccharidosis I.
1998 |
Faculty of Physical Education and Sport
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Rapid and accurate denaturating high performance liquid chromatography protocol for the detection of alpha-L-iduronidase mutations causing mucopolysaccharidosis type I
2010 |
First Faculty of Medicine
publication
Mucopolysaccharidosis type VI in Russia, Kazakhstan, and Central and Eastern Europe
2014 |
First Faculty of Medicine
publication
Mucopolysaccharidosis Type I in 21 Czech and Slovak Patients: Mutation Analysis Suggests a Functional Importance of C-Terminus of the IDUA Protein
2009 |
First Faculty of Medicine
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Mucopolysacharidosis
2011 |
First Faculty of Medicine
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Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease
2011 |
First Faculty of Medicine
publication
Mucopolysaccharidosis type I: Molecular studies of IDUA gene in Czech and Slovak populations
Publication without faculty affiliation
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Mutation analysis of the IDUA gene in Czech and Slovak patients with mucopolysaccharidosis type I
Publication without faculty affiliation
publication
Mucopolysaccharidosis in the Czech and the Slovak Republic: a spectrum of clinical manifestation and a diagnostic scheme
Publication without faculty affiliation
publication
Late diagnosis of mucopolysaccharidosis type IVB and successful aortic valve replacement in a 60-year-old female patient
2018 |
First Faculty of Medicine
publication
Molecular analysis of idua gene in 19 Czech and Slovak patients with mucopolysaccharidosis type I
Publication without faculty affiliation
publication
The landscape of Mucopolysaccharidosis in Southern and Eastern European countries: a survey from 19 specialistic centers
2022 |
First Faculty of Medicine