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Pigmentary retinopathy can indicate the presence of pathogenic LAMP2 variants even in somatic mosaic carriers with no additional signs of Danon disease.
- Published in:
- Acta Ophthalmologica (1755375X), 2021, v. 99, n. 1, p. 61, doi. 10.1111/aos.14478
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- Article
Photodynamic Therapy of Nonmelanoma Skin Cancer with Topical Hypericum perforatum Extract—A Pilot Study.
- Published in:
- Photochemistry & Photobiology, 2008, v. 84, n. 3, p. 779, doi. 10.1111/j.1751-1097.2007.00260.x
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- Publication type:
- Article
Bioinformatic and biochemical studies point to AAGR-1 as the ortholog of human acid α-glucosidase in Caenorhabditis elegans.
- Published in:
- Molecular & Cellular Biochemistry, 2010, v. 341, n. 1/2, p. 51, doi. 10.1007/s11010-010-0436-3
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- Publication type:
- Article
Estrogen-induced cholestasis results in a dramatic increase of b-series gangliosides in the rat liver.
- Published in:
- Biomedical Chromatography, 2007, v. 21, n. 5, p. 446, doi. 10.1002/bmc.743
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- Publication type:
- Article
Loading of cell cultures with cholesterol‐dextran particles as a new functional test for Niemann–Pick type C disease.
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- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 3, p. 584, doi. 10.1002/jimd.12481
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- Publication type:
- Article
Mosaic tissue distribution of the tandem duplication of LAMP2 exons 4 and 5 demonstrates the limits of Danon disease cellular and molecular diagnostics.
- Published in:
- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 1, p. 117, doi. 10.1007/s10545-013-9617-z
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- Article
Changes in GM1 ganglioside content and localization in cholestatic rat liver.
- Published in:
- Glycoconjugate Journal, 2007, v. 24, n. 4-5, p. 231, doi. 10.1007/s10719-007-9030-7
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- Publication type:
- Article
Danon disease is an underdiagnosed cause of advanced heart failure in young female patients: a LAMP2 flow cytometric study.
- Published in:
- ESC Heart Failure, 2020, v. 7, n. 5, p. 2534, doi. 10.1002/ehf2.12823
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- Publication type:
- Article
Two aspartic proteinases secreted by the pathogenic yeast Candida parapsilosis differ in expression pattern and catalytic properties.
- Published in:
- Biological Chemistry, 2009, v. 390, n. 3, p. 259, doi. 10.1515/BC.2009.034
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- Publication type:
- Article
Structure-based specificity mapping of secreted aspartic proteases of Candida parapsilosis, Candida albicans, and Candida tropicalis using peptidomimetic inhibitors and homology modeling.
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- Biological Chemistry, 2006, v. 387, n. 9, p. 1247, doi. 10.1515/BC.2006.154
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- Publication type:
- Article
Pathogenic RAB34 variants impair primary cilium assembly and cause a novel oral-facial-digital syndrome.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 18, p. 2822, doi. 10.1093/hmg/ddad109
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- Publication type:
- Article
Alu‐mediated Xq24 deletion encompassing CUL4B, LAMP2, ATP1B4, TMEM255A, and ZBTB33 genes causes Danon disease in a female patient.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 219, doi. 10.1002/ajmg.a.61416
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- Article
LAMP2 exon‐copy number variations in Danon disease heterozygote female probands: Infrequent or underdetected?
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2430, doi. 10.1002/ajmg.a.40430
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- Article
Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations.
- Published in:
- 2020
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- Publication type:
- journal article
Easy and fast PCR‐based protocol allows characterization of breakpoints resulting from Alu/Alu‐mediated genomic rearrangements.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 12, p. 1, doi. 10.1002/mgg3.1830
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- Publication type:
- Article
Spinal muscular atrophy caused by a novel Alu‐mediated deletion of exons 2a‐5 in SMN1 undetectable with routine genetic testing.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1238
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- Publication type:
- Article