Rafał Płoski

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...

Quality of life, caregiver burden, and clinical correlates in Kabuki syndrome: a cross-sectional observational study

Kabuki syndrome (KS) is a rare multisystem neurodevelopmental disorder caused by pathogenic variants in KMT2D or KDM6A . We examine quality of life (QoL), its correlates, patterns of rehabilitation utilization, patient functioning, and caregiver burden in a Polish patient group....