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1 . Academic Journal
Acid Ceramidase Deficiency in Mice Leads to Severe Ocular Pathology and Visual Impairment
저자
by
Yu, Fabian P.S.
;
Sajdak, Benjamin S.
;
Sikora, Jakub
;
Salmon, Alexander E.
;
Nagree, Murtaza S.
, et al.
소스
In
The American Journal of Pathology
February 2019 189(2):320-338
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7 . Academic Journal
The impact of frailty syndrome on humoral response to SARS-CoV-2 mRNA vaccines in older kidney transplant recipients.
저자
by
Schmalz, Michal
;
Vankova, Hana
;
Rajnochova-Bloudickova, Silvie
;
Hruba, Petra
;
Fialova, Martina
, et al.
소스
International Urology & Nephrology; Nov2023, Vol. 55 Issue 11, p2959-2965, 7p
Web of Science
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7 . Periodical
Determinants of Immune Response to Anti–SARS-CoV-2 mRNA Vaccines in Kidney Transplant Recipients: A Prospective Cohort Study
저자
by
Magicova, Maria
;
Zahradka, Ivan
;
Fialova, Martina
;
Neskudla, Tomas
;
Gurka, Jiri
, et al.
소스
Transplantation; April 2022, Vol. 106 Issue: 4 p842-852, 11p
Full Text (LWW)
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7 . Academic Journal
Pigmentary retinopathy can indicate the presence of pathogenic LAMP2 variants even in somatic mosaic carriers with no additional signs of Danon disease.
저자
by
Kousal, Bohdan
;
Majer, Filip
;
Vlaskova, Hana
;
Dvorakova, Lenka
;
Piherova, Lenka
, et al.
소스
Acta Ophthalmologica (1755375X)
. Feb2021, Vol. 99 Issue 1, p61-68. 8p.
Full Text (Wiley)
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7 . Academic Journal
Danon disease is an underdiagnosed cause of advanced heart failure in young female patients: a LAMP2 flow cytometric study.
저자
by
Gurka, Jiri
;
Piherova, Lenka
;
Majer, Filip
;
Chaloupka, Anna
;
Zakova, Daniela
, et al.
소스
ESC Heart Failure; Oct2020, Vol. 7 Issue 5, p2534-2543, 10p
Open Access (Wiley)
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7 . Academic Journal
Alu‐mediated Xq24 deletion encompassing CUL4B, LAMP2, ATP1B4, TMEM255A, and ZBTB33 genes causes Danon disease in a female patient.
저자
by
Majer, Filip
;
Kousal, Bohdan
;
Dusek, Petr
;
Piherova, Lenka
;
Reboun, Martin
, et al.
소스
American Journal of Medical Genetics. Part A; Jan2020, Vol. 182 Issue 1, p219-223, 5p
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7 . Academic Journal
Variable X-chromosome inactivation and enlargement of pericentral glutamine synthetase zones in the liver of heterozygous females with OTC deficiency.
저자
by
Musalkova, Dita
;
Sticova, Eva
;
Reboun, Martin
;
Sokolova, Jitka
;
Krijt, Jakub
, et al.
소스
Virchows Archiv: European Journal of Pathology; Jun2018, Vol. 472 Issue 6, p1029-1039, 11p
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7 . Academic Journal
Chronic lung injury and impaired pulmonary function in a mouse model of acid ceramidase deficiency.
저자
by
Yu, Fabian P. S.
;
Islam, Diana
;
Sikora, Jakub
;
Dworski, Shaalee
;
Gurka, Jiří
, et al.
소스
American Journal of Physiology: Lung Cellular & Molecular Physiology
. Mar2018, Vol. 314 Issue 3, pL406-L420. 15p.
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7 . Academic Journal
Pigmentary retinopathy can indicate the presence of pathogenic LAMP2 variants even in somatic mosaic carriers with no additional signs of Danon disease
저자
by
Kousal, Bohdan
;
Majer, Filip
;
Vlaskova, Hana
;
Dvorakova, Lenka
;
Piherova, Lenka
, et al.
소스
ACTA OPHTHALMOLOGICA
; JUN 13 2020, 8p.
Full Text (Wiley)
Scopus
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7 . Patent
저자
by
Olschewski, Armin Herbert Emil August
;
Kapaan, Hendrikus Jan
;
Druet, Clair
;
Fucks, Thomas Wilhelm
;
Antensteiner, Manfred
, et al.
소스
Open Access (USPTO)
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