Associated Papers
Deficiency of Glucocerebrosidase Activity beyond Gaucher Disease: PSAP and LIMP-2 Dysfunctions.
Pavan E et al.
International Journal of Molecular Sciences, 2024
Genotype-Phenotype correlations of SCARB2 associated clinical presentation: a case report and in-depth literature review.
Atasu B et al.
Bmc Neurology, 2022
A novel homozygous splice-site mutation in SCARB2 is associated with progressive myoclonic epilepsy with renal failure.
Yari A et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021
Select a paper to view details