Molecular Genetics and Metabolism Reports This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

Open-label clinical trial of bezafibrate treatment in patients with fatty acid oxidation disorders in Japan; 2nd report QOL survey
ConclusionOur findings supported one of the stated benefits of bezafibrate in improving QOL for patients with FAODs. (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - July 25, 2019 Category: Genetics & Stem Cells Source Type: research

Future clinical and biochemical predictions of Fabry disease in females by methylation studies of the GLA gene
In this report, we summarized 36 heterozygous females with a clinical severity score based on the FAbry STabilization indEX (FASTEX). We measured their α-gal A activity and plasma/ serum globotriaosylsphingosine (lyso-Gb3) accumulation and performed electron microscopy of skin biopsies. We analyzed the methylation-sensitive restriction enzyme sites throughout the GLA gene, including the 5’UTR, and found a single SacII site and multiple HhaI and HpaII sites aggregated in exon 1 and the 5’UTR. One HpaII sequence in exon 7 was also detected as a methylation-sensitive site. With methylation-sensitive restriction enzymes, ...
Source: Molecular Genetics and Metabolism Reports - July 25, 2019 Category: Genetics & Stem Cells Source Type: research

Response to Gurevich and colleagues: The effect of enzyme replacement therapy on clinical outcomes in male patients with Fabry disease: a systematic literature review by a European panel of experts
Publication date: Available online 22 July 2019Source: Molecular Genetics and Metabolism ReportsAuthor(s): Dominique P. Germain, Bruno Falissard, Max J. Hilz, Marco Spada, Christoph Wanner, Perry M. Elliott (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - July 23, 2019 Category: Genetics & Stem Cells Source Type: research

The migalastat GLP-HEK assay is the gold standard for determining amenability in patients with Fabry disease
Publication date: September 2019Source: Molecular Genetics and Metabolism Reports, Volume 20Author(s): Raphael Schiffmann, Daniel G. Bichet, Elfrida Benjamin, Xiaoyang Wu, Roberto Giugliani (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - July 19, 2019 Category: Genetics & Stem Cells Source Type: research

Genotype-phenotype correlation of gangliosidosis mutations using in silico tools and homology modeling
Publication date: September 2019Source: Molecular Genetics and Metabolism Reports, Volume 20Author(s): Li Ou, Sarah Kim, Chester B. Whitley, Jeanine R. Jarnes-UtzAbstractGangliosidoses, including GM1-gangliosidosis and GM2-gangliosidosis (Tay-Sachs disease and Sandhoff disease), are lysosomal disorders resulting from enzyme deficiencies and accumulation of gangliosides. Phenotypes of gangliosidoses range from infantile, late-infantile, juvenile, and to the adult form. The genotype-phenotype correlation is essential for prognosis and clinical care planning for patients with a gangliosidosis condition. Previously, we have de...
Source: Molecular Genetics and Metabolism Reports - July 17, 2019 Category: Genetics & Stem Cells Source Type: research