Detalhe da pesquisa
1.
Autosomal dominant ApoA4 mutations present as tubulointerstitial kidney disease with medullary amyloidosis.
Kidney Int
; 105(4): 799-811, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38096951
2.
A mutation in the SAA1 promoter causes hereditary amyloid A amyloidosis.
Kidney Int
; 101(2): 349-359, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34560138
3.
Pitfalls of X-chromosome inactivation testing in females with Fabry disease.
Am J Med Genet A
; 188(7): 1979-1989, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35338595
4.
Skin inflammation and impaired adipogenesis in a mouse model of acid ceramidase deficiency.
J Inherit Metab Dis
; 45(6): 1175-1190, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36083604
5.
Quality Assessment of Wild and Cultivated Green Tea from Different Regions of China.
Molecules
; 26(12)2021 Jun 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-34199199
6.
An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes.
Kidney Int
; 98(6): 1589-1604, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32750457
7.
Acid Ceramidase Deficiency in Mice Leads to Severe Ocular Pathology and Visual Impairment.
Am J Pathol
; 189(2): 320-338, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30472209
8.
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
em Inglês
| MEDLINE | ID: mdl-31729179
9.
Hepatic pathology and altered gene transcription in a murine model of acid ceramidase deficiency.
Lab Invest
; 99(10): 1572-1592, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31186526
10.
Specific storage of glycoconjugates with terminal α-galactosyl moieties in the exocrine pancreas of Fabry disease patients with blood group B.
Glycobiology
; 28(6): 382-391, 2018 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29548035
11.
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
em Inglês
| MEDLINE | ID: mdl-29167126
12.
Acid Ceramidase Deficiency in Mice Results in a Broad Range of Central Nervous System Abnormalities.
Am J Pathol
; 187(4): 864-883, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28342444
13.
LAMP2 exon-copy number variations in Danon disease heterozygote female probands: Infrequent or underdetected?
Am J Med Genet A
; 176(11): 2430-2434, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30194816
14.
Neural cells generated from human induced pluripotent stem cells as a model of CNS involvement in mucopolysaccharidosis type II.
J Inherit Metab Dis
; 41(2): 221-229, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29168031
15.
N-butyldeoxynojirimycin delays motor deficits, cerebellar microgliosis, and Purkinje cell loss in a mouse model of mucolipidosis type IV.
Neurobiol Dis
; 105: 257-270, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28610891
16.
A murine Niemann-Pick C1 I1061T knock-in model recapitulates the pathological features of the most prevalent human disease allele.
J Neurosci
; 35(21): 8091-106, 2015 May 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-26019327
17.
Lysosomal membrane permeability stimulates protein aggregate formation in neurons of a lysosomal disease.
J Neurosci
; 33(26): 10815-27, 2013 Jun 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-23804102
18.
Mutations of ATIC and ADSL affect purinosome assembly in cultured skin fibroblasts from patients with AICA-ribosiduria and ADSL deficiency.
Hum Mol Genet
; 21(7): 1534-43, 2012 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22180458
19.
Mosaic tissue distribution of the tandem duplication of LAMP2 exons 4 and 5 demonstrates the limits of Danon disease cellular and molecular diagnostics.
J Inherit Metab Dis
; 37(1): 117-24, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23716275
20.
Adenotonsillar pathology in mucopolysaccharidoses - lysosomal storage predominates in paracortical CD63+ cells.
Virchows Arch
; 484(1): 135-140, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37787787