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Search for publications relevant for "mucopolysaccharidosis type II"
mucopolysaccharidosis type II
Publication
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Person
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publication
Late diagnosis of mucopolysaccharidosis type I in a girl with hand contractures
2023 |
First Faculty of Medicine
publication
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
Genotype-phenotype correlation in 44 Czech, Slovak, Croatian and Serbian patients with mucopolysaccharidosis type II
2017 |
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
Mucopolysaccharidosis type II (Hunter disease): Biochemical postnatal and prenatal diagnosis
Publication without faculty affiliation
publication
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 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
publication
Mutation analysis of the IDUA gene in Czech and Slovak patients with mucopolysaccharidosis type I
Publication without faculty affiliation
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 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
Neural cells generated from human induced pluripotent stem cells as a model of CNS involvement in mucopolysaccharidosis type II
2018 |
First Faculty of Medicine
publication
Mutation in TMEM76 are associated with acetyl coenzyme A: Alfa-glucosaminide A acetyltransferase deficiency in mucopolysaccharidosis type IIIc patients
Publication without faculty affiliation
publication
Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy
Publication without faculty affiliation
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
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
publication
Large Proteoglycan Complexes and Disturbed Collagen Architecture in the Corneal Extracellular Matrix of Mucopolysaccharidosis Type VII (Sly Syndrome)
2011 |
First Faculty of Medicine
publication
Mucopolysaccharidosis type I in Czech and Slovak populations: identification of three novel mutations in the IDUA gene, characterization of haplotypes in mutant and kontrol alleles
Publication without faculty affiliation
publication
The effect of idursulfase on growth in patients with Hunter syndrome: Data from the Hunter Outcome Survey (HOS)
2013 |
First Faculty of Medicine
publication
Development of a mnemonic screening tool for identifying subjects with Hunter syndrome
2013 |
First Faculty of Medicine
publication
GM1 Gangliosidosis and Morquio B Disease: Expression Analysis of Missense Mutations Affecting the Catalytic Site of Acid beta-Galactosidase
2009 |
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
Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure
2012 |
First Faculty of Medicine
publication
Effect of rapid cessation of enzyme replacement therapy: A report of 5 more cases
2014 |
First Faculty of Medicine
publication
HGSNAT has a TATA-less promoter with multiple starts of transcription
2016 |
First Faculty of Medicine
publication
Advances in treatment of lysosomal storage diseases
2022 |
First Faculty of Medicine
publication
Outcomes of hematopoietic stem cell transplantation for Hurler's syndrome in Europe: a risk factor analysis for graft failure
2007 |
Second Faculty of Medicine