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1.
Pathogenic RAB34 variants impair primary cilium assembly and cause a novel oral-facial-digital syndrome.
Hum Mol Genet
; 32(18): 2822-2831, 2023 09 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-37384395
2.
Loading of cell cultures with cholesterol-dextran particles as a new functional test for Niemann-Pick type C disease.
J Inherit Metab Dis
; 45(3): 584-592, 2022 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-35088900
3.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-31729179
4.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-30194816
5.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-23716275
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-32533651
7.
Bioinformatic and biochemical studies point to AAGR-1 as the ortholog of human acid alpha-glucosidase in Caenorhabditis elegans.
Mol Cell Biochem
; 341(1-2): 51-63, 2010 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-20349118
8.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-32657043
9.
Spinal muscular atrophy caused by a novel Alu-mediated deletion of exons 2a-5 in SMN1 undetectable with routine genetic testing.
Mol Genet Genomic Med
; 8(7): e1238, 2020 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-32337852
10.
Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations.
Orphanet J Rare Dis
; 15(1): 85, 2020 04 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-32248828
11.
Photodynamic therapy of nonmelanoma skin cancer with topical hypericum perforatum extract--a pilot study.
Photochem Photobiol
; 84(3): 779-85, 2008.
Artículo
en Inglés
| MEDLINE | ID: mdl-18179625
12.
Identification of bilirubin reduction products formed by Clostridium perfringens isolated from human neonatal fecal flora.
J Chromatogr B Analyt Technol Biomed Life Sci
; 833(2): 149-57, 2006 Apr 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-16504607
13.
Easy and fast PCR-based protocol allows characterization of breakpoints resulting from Alu/Alu-mediated genomic rearrangements.
Mol Genet Genomic Med
; 9(12): e1830, 2021 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-34596355
14.
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.
J Cardiol
; 66(1): 88-9, 2015 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-25636828
15.
Two aspartic proteinases secreted by the pathogenic yeast Candida parapsilosis differ in expression pattern and catalytic properties.
Biol Chem
; 390(3): 259-68, 2009 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-19166319
16.
Estrogen-induced cholestasis results in a dramatic increase of b-series gangliosides in the rat liver.
Biomed Chromatogr
; 21(5): 446-50, 2007 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-17357127
17.
Changes in GM1 ganglioside content and localization in cholestatic rat liver.
Glycoconj J
; 24(4-5): 231-41, 2007 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-17333356
18.
Structure-based specificity mapping of secreted aspartic proteases of Candida parapsilosis, Candida albicans, and Candida tropicalis using peptidomimetic inhibitors and homology modeling.
Biol Chem
; 387(9): 1247-54, 2006 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-16972793
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