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Search for publications relevant for "lysosomal storage diseases"
lysosomal storage diseases
Publication
Class
Person
Publication
Programmes
publication
Enzyme replacement therapy in lysosomal storage diseases
2015 |
First Faculty of Medicine, Faculty of Physical Education and Sport
publication
Musculoskeletal involvement in patients with lysosomal storage disease
2019 |
First Faculty of Medicine
publication
Lysosomal storage diseases: current diagnostic and therapeutic options
2013 |
First Faculty of Medicine
publication
Lysosomal storage diseases: current diagnostic and therapeutic options (continued)
2013 |
First Faculty of Medicine
publication
Advances in treatment of lysosomal storage diseases
2022 |
First Faculty of Medicine
publication
Inhibition of substrate synthesis as a strategy for glycolipid lysosomal storage disease therapy
2001 |
First Faculty of Medicine
publication
Sequelae of storage in Fabry disease - pathology and comparison with other lysosomal storage diseases
2003 |
First Faculty of Medicine
publication
History of lysosomal storage diseases: an overview
2006 |
First Faculty of Medicine
publication
Fabry disease - lysosomal storage disease with multiorgan involvement.
2012 |
First Faculty of Medicine
publication
Pulmonary storage
2022 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Clinical Manifestations and Results of Laboratory Examinations in Four Patients with Alpha-Mannosidosis
2008 |
First Faculty of Medicine
publication
Clinical Manifestations and Results of Laboratory Examinations in Four Patients with Alpha-Mannosidosis
2008 |
Publication without faculty affiliation
publication
Fabry's disease from the point of view of nephrology
2015 |
First Faculty of Medicine
publication
Development of a mnemonic screening tool for identifying subjects with Hunter syndrome
2013 |
First Faculty of Medicine
publication
Sebelipase alfa for lysosomal acid lipase deficiency: 5-year treatment experience from a phase 2 open-label extension study
2020 |
First Faculty of Medicine
publication
N-butyldeoxynojirimycin delays motor deficits, cerebellar microgliosis, and Purkinje cell loss in a mouse model of mucolipidosis type IV
2017 |
First Faculty of Medicine
publication
Cardiovascular events in patients with Fabry disease. Natural history data from the Fabry registry.
2011 |
First Faculty of Medicine
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
Follow-up study of subunit c of mitochondrial ATP synthase (SCMAS) in Batten disease and in unrelated lysosomal disorders
1997 |
First Faculty of Medicine
publication
Gaucher disease - current possibilities of therapy
2019 |
First Faculty of Medicine
publication
Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations
2020 |
First Faculty of Medicine
publication
Placenta analysis of prenatally diagnosed patients reveals early GAG storage in mucopolysaccharidoses II and VI
2011 |
First Faculty of Medicine
publication
The late-onset form of Pompe disease
2021 |
First Faculty of Medicine
publication
Abnormal nonstoring capillary endothelium: a novel feature of Gaucher disease. Ultrastructural study of dermal capillaries
2010 |
First Faculty of Medicine
publication
1bp deletion in saposin B domain of the prosaposin gene leads to nonsense-mediated mRNA decay and prosaposin deficiency
Publication without faculty affiliation
publication
Compound heterozygosity for a Wolman mutation is frequent among patients with cholesteryl ester storage disease
2000 |
First Faculty of Medicine
publication
Disseminated Purple Papules
2009 |
First Faculty of Medicine
publication
Fabry disease
+1
2018 |
First Faculty of Medicine
publication
Rare neurodegenerative and neurometabolic brain diseases
2014 |
First Faculty of Medicine