Detalhe da pesquisa
1.
Acid Ceramidase Deficiency in Mice Leads to Severe Ocular Pathology and Visual Impairment.
Am J Pathol
; 189(2): 320-338, 2019 02.
Artigo
Inglês
| MEDLINE | ID: mdl-30472209
2.
Alu-mediated Xq24 deletion encompassing CUL4B, LAMP2, ATP1B4, TMEM255A, and ZBTB33 genes causes Danon disease in a female patient.
Am J Med Genet A
; 182(1): 219-223, 2020 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31729179
3.
Chronic lung injury and impaired pulmonary function in a mouse model of acid ceramidase deficiency.
Am J Physiol Lung Cell Mol Physiol
; 314(3): L406-L420, 2018 03 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29167126
4.
The impact of frailty syndrome on humoral response to SARS-CoV-2 mRNA vaccines in older kidney transplant recipients.
Int Urol Nephrol
; 55(11): 2959-2965, 2023 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-37027078
5.
Determinants of Immune Response to Anti-SARS-CoV-2 mRNA Vaccines in Kidney Transplant Recipients: A Prospective Cohort Study.
Transplantation
; 106(4): 842-852, 2022 04 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34999659
6.
Pigmentary retinopathy can indicate the presence of pathogenic LAMP2 variants even in somatic mosaic carriers with no additional signs of Danon disease.
Acta Ophthalmol
; 99(1): 61-68, 2021 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-32533651
7.
Danon disease is an underdiagnosed cause of advanced heart failure in young female patients: a LAMP2 flow cytometric study.
ESC Heart Fail
; 7(5): 2534-2543, 2020 10.
Artigo
Inglês
| MEDLINE | ID: mdl-32657043
8.
Variable X-chromosome inactivation and enlargement of pericentral glutamine synthetase zones in the liver of heterozygous females with OTC deficiency.
Virchows Arch
; 472(6): 1029-1039, 2018 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-29623395