References in periodicals archive ?
SMPD1 gene analysis was performed on 17 patients in the study.
Some examples are variants in the glucocerebrosidase (GBA) [40], the sphingomyelin phosphodiesterase 1 (SMPD1) [41], and the GTP cyclohydrolase 1 (GCH1) [42] genes, responsible for Gaucher's disease, Niemann-Pick A disease, and doparesponsive dystonia (DRD), respectively.
[14] Human genes: HBB, hemoglobin, beta; HLA-DRB1, SIC25A22, solute carrier family 25 (mitochondrial carrier: glutamate), member 22; INS, insulin; SMPD1, sphingomyelin phosphodiesterase 1, acid lysosomal; TH, tyrosine hydroxylase.