Associated Papers
Deficiency of Glucocerebrosidase Activity beyond Gaucher Disease: PSAP and LIMP-2 Dysfunctions.
Pavan E et al.
International Journal of Molecular Sciences, 2024
38928321 (PubMed )
Supplement: ijms-25-06615-s001.zip › ijms-2989914-supplementary.pdf
Three mutations of adult type 1 Gaucher disease found in a Chinese patient: A case report.
Du X et al.
Medicine, 2018
Functional analysis of 11 novel GBA alleles.
Malini E et al.
European Journal of Human Genetics : Ejhg, 2014
Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria.
Mechtler TP et al.
Lancet (london, England), 2012
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