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Lista de obras de Filip Majer

Bioinformatic and biochemical studies point to AAGR-1 as the ortholog of human acid alpha-glucosidase in Caenorhabditis elegans

artículo científico publicado en 2010

Changes in GM1 ganglioside content and localization in cholestatic rat liver

scientific article published on 27 February 2007

Danon disease: a focus on processing of the novel LAMP2 mutation and comments on the beneficial use of peripheral white blood cells in the diagnosis of LAMP2 deficiency.

artículo científico publicado en 2012

Detailed molecular characterization of a novel IDS exonic mutation associated with multiple pseudoexon activation

artículo científico publicado en 2016

Estrogen-induced cholestasis results in a dramatic increase of b-series gangliosides in the rat liver

artículo científico publicado en 2007

Identification of bilirubin reduction products formed by Clostridium perfringens isolated from human neonatal fecal flora.

artículo científico publicado en 2006

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.

artículo científico publicado en 2015

Mosaic tissue distribution of the tandem duplication of LAMP2 exons 4 and 5 demonstrates the limits of Danon disease cellular and molecular diagnostics.

artículo científico publicado en 2013

Ornithine carbamoyltransferase deficiency: molecular characterization of 29 families.

artículo científico publicado en 2013

Photodynamic therapy of nonmelanoma skin cancer with topical hypericum perforatum extract--a pilot study

artículo científico publicado en 2008

Pigmentary retinopathy can indicate the presence of pathogenic LAMP2 variants even in somatic mosaic carriers with no additional signs of Danon disease

artículo científico publicado en 2020

Spinal muscular atrophy caused by a novel Alu-mediated deletion of exons 2a-5 in SMN1 undetectable with routine genetic testing

scientific article published on 26 April 2020

Structure-based specificity mapping of secreted aspartic proteases of Candida parapsilosis, Candida albicans, and Candida tropicalis using peptidomimetic inhibitors and homology modeling

scientific article published on 01 September 2006

Two aspartic proteinases secreted by the pathogenic yeast Candida parapsilosis differ in expression pattern and catalytic properties

artículo científico publicado en 2009

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