PIK3C2A and Decreased total neutrophil count: Of the five cases in which the reason for an incorrect diagnostic hypothesis was attributed to confounding factors, the explanations refer to one case of elevated CPK, a characteristic suggestive of GSD III, but with a diagnosis confirmed via NGS of GSD Ia; two cases of neutropenia, a finding most suggestive of GSD Ib, however with a confirmed diagnosis of GSD Ia via NGS; and two patients with a confirmed diagnosis of GSD Ib, but without presenting neutropenia.