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Danon disease
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DANON DISEASE: FURTHER CLINICAL AND MOLECULAR HETEROGENEITY
2009 |
First Faculty of Medicine
publication
LAMP2 flow cytometry in peripheral white blood cells is an established method that facilitates identification of heterozygous Danon disease female patients and mosaic mutation carriers
+1
2015 |
First Faculty of Medicine, Second Faculty of Medicine
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Danon disease: A focus on processing of the novel LAMP2 mutation and comments on the beneficial use of peripheral white blood cells in the diagnosis of LAMP2 deficiency
2012 |
Second Faculty of Medicine
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Danon disease: A focus on processing of the novel LAMP2 mutation and comments on the beneficial use of peripheral white blood cells in the diagnosis of LAMP2 deficiency
2012 |
First Faculty of Medicine
publication
Danon disease is an underdiagnosed cause of advanced heart failure in young female patients: a LAMP2 flow cytometric study
2020 |
First Faculty of Medicine, Second Faculty of Medicine, Central Library of Charles University
publication
Danon disease is an underdiagnosed cause of advanced heart failure in young female patients: a LAMP2 flow cytometric study
Publication without faculty affiliation
publication
LAMP2 exon-copy number variations in Danon disease heterozygote female probands: Infrequent or underdetected?
2018 |
First Faculty of Medicine, Second Faculty of Medicine, Central Library of Charles University
publication
Pigmentary retinopathy can indicate the presence of pathogenic LAMP2 variants even in somatic mosaic carriers with no additional signs of Danon disease
2021 |
First Faculty of Medicine, Second Faculty of Medicine, Central Library of Charles University, Faculty of Medicine in Hradec Králové
publication
Alu-mediated Xq24 deletion encompassing CUL4B, LAMP2, ATP1B4, TMEM255A, and ZBTB33 genes causes Danon disease in a female patient
2020 |
First Faculty of Medicine, Second Faculty of Medicine, Central Library of Charles University
publication
Mosaic tissue distribution of the tandem duplication of LAMP2 exons 4 and 5 demonstrates the limits of Danon disease cellular and molecular diagnostics
2014 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Autophagic vacuolar myopathies: what we have learned from the differential diagnosis of vacuoles in muscle biopsy
2013 |
First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
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Common presentation of rare diseases: Left ventricular hypertrophy and diastolic dysfunction
2018 |
First Faculty of Medicine
publication
Outcomes of pregnancy in pre-existing cardiomyopathy and after heart transplantation
2022 |
First Faculty of Medicine, Central Library of Charles University