Barbara Czartoryska

TL;DR: It is found that genistein inhibits synthesis of GAGs considerably in cultures of fibroblasts of MPS patients and is proposed to consider a substrate reduction therapy for MPS, which is referred to as ‘gene expression-targeted isoflavone therapy’.

TL;DR: This pilot study found some improvements in GAG concentration, hair morphology, and cognitive function in these pediatric patients with Sanfilippo syndrome treated with genistin-rich soy isoflavone extract for 1 year.

TL;DR: The presented findings describe the first cases where the non‐neuronopathic Gaucher disease has been definitely demonstrated to be a consequence of SAP‐C deficiency.

TL;DR: This analysis showed that five mutations dramatically reduce the enzyme activity and cause a rapid intralysosomal degradation of the expressed protein, and it is hypothesized that this region may be involved in the interface of sialidase binding with lysosome cathepsin A and/or beta-galactosidase in their high-molecular-weight complex required for the expression of sIALidase activity in the lysOSome.

TL;DR: Mutation analysis of the N‐acetylgalactosamine‐6‐sulfate sulfatase gene was performed in patients with mucopolysaccharidosis type IVA from 33 families, mainly of European origin, and found the vast majority of the gene alterations proved to be point mutations.