Patryk Lipiński

Ambroxol in Gaucher disease and GBA1-related Parkinson disease: an updated systematic review

Abstract Background Ambroxol (ABX) is a central nervous system (CNS)-penetrant compound that can increase glucocerebrosidase activity and has been investigated in Gaucher disease (GD) and GBA1 -related Parkinson disease ( GBA1 -PD). Methods This PRISMA 2020 systematic review and...

Asparagine Synthetase Deficiency: A Novel ASNS Variant and a Systematic Review of Clinical Phenotypes and Cerebrospinal Fluid Asparagine Levels

Background: Asparagine synthetase deficiency (ASNSD) is a rare autosomal recessive neurometabolic disorder associated with microcephaly, severe developmental impairment, epilepsy, and progressive cerebral atrophy. Reduced cerebrospinal fluid (CSF) asparagine has been proposed as...