Catia Cavicchi

TL;DR: The integration of PCR-sequencing analysis with exon-dosage tools [MLPA and quantitative fluorescent multiplex-PCR] led to the full genotyping of patients within the authors' cohort and to the identification of the new deletion encompassing the promoter region and exon 1.

TL;DR: The functional and pathogenic characterization of genetic variants presented here is required to predict their medical consequences in newborns to confirm the rising incidence of MCADD whose existence is increasingly recognized due to the efficacy of an expanded newborn screening panel by LC-MS/MS.

TL;DR: In this article , an epigenetic disorder called epi-cblC was identified, which results from an aberrant antisense transcription due to splicing mutations in the antisense PRDX1 gene neighboring MMACHC.

TL;DR: This work identified two new gross GLA gene rearrangements, which were not properly detected by MLPA in male patients with FD, and carried out screening for possible heterozygosity among at risk female family members.

TL;DR: The retinal structure of a group of patients affected by methylmalonic aciduria with homocystinuria cblC type, caused by mutations in the MMACHC gene, is described using spectral domain optical coherence tomography (SD‐OCT).