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Peripheral white blood cells
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publication
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 |
1. lékařská fakulta
publication
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 |
2. lékařská fakulta
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 |
1. lékařská fakulta, 2. lékařská fakulta
publication
A History of Preterm Delivery Is Associated with Aberrant Postpartal MicroRNA Expression Profiles in Mothers with an Absence of Other Pregnancy-Related Complications
2021 |
3. lékařská fakulta
publication
Alu-mediated Xq24 deletion encompassing CUL4B, LAMP2, ATP1B4, TMEM255A, and ZBTB33 genes causes Danon disease in a female patient
2020 |
1. lékařská fakulta, 2. lékařská fakulta, Ústřední knihovna
publication
Danon disease is an underdiagnosed cause of advanced heart failure in young female patients: a LAMP2 flow cytometric study
2020 |
1. lékařská fakulta, 2. lékařská fakulta, Ústřední knihovna
publication
Danon disease is an underdiagnosed cause of advanced heart failure in young female patients: a LAMP2 flow cytometric study
Publikace bez příslušnosti k fakultě
publication
Neural cells generated from human induced pluripotent stem cells as a model of CNS involvement in mucopolysaccharidosis type II
2018 |
1. lékařská fakulta
publication
Defective gene expression of the membrane complement inhibitor CD46 in patients with progressive immunoglobulin A nephropathy
2019 |
1. lékařská fakulta