PIGW-related glycosylphosphatidylinositol deficiency: A case report and literature review

ConclusionsPIGW-related glycosylphosphatidylinositol deficiency is characterized by developmental delay, epilepsy, distinctive facial features, and multiple organ anomalies. Genetic testing is an important method for diagnosing this disease, and flow cytometry and serum ALP level detection are crucial complements for genetic testing.
Source: Neurological Sciences - Category: Neurology Source Type: research