Fig 1.
Geographic distribution of the 65 cases of hepatic GSD in Saudi Arabia.
The figure is similar but not identical to the original image and is therefore for illustrative purposes only.
Table 1.
Clinical presentation of the most common hepatic GSDs.
Table 2.
Clinical and laboratory features of the hepatic GSD IV, GSD IX, and XI.
Table 3.
Systemic involvement and complications associated with GSD-subtypes over the follow up period.
Table 4.
Hepatic GSD genetic variants (n = 65 patients, 61 families, 27 variants).
Fig 2.
Exon map of gene variants identified in GSD patients (A, forward strand; B, reverse strand) and conservation of mutated amino acids across species (C, novel variants and VUS only).
(A) Detailed exon map of genes in the forward direction, with the solid bars representing exons (left to right) and arrows showing the variants at specific exons. The number beside the gene name represents the total number of exons in that particular gene. (B) Detailed exon map of genes in the reverse direction, with the solid bars representing exons (right to left) and arrows showing the variants at specific exons. The number beside the gene name represents the total number of exons in that particular gene. (C) Only VUS and novel variants are shown here. Part of the gene nucleotide sequence obtained from NCBI showing the conservation of the mutated amino acid (see arrows) across species.