Case reports of metabolic disorders from Nepal

ConclusionsGlucose 6 phosphate dehydrogenase deficiency, Wilson's disease and lysosomal disorders should be considered for early diagnosis through newborn screening along with the acknowledged disorders hypothyroidism and hemoglobinopathies in Nepal. Early intervention in these disorders can significantly reduce morbidity and mortality in infancy.
Source: Molecular Genetics and Metabolism Reports - Category: Genetics & Stem Cells Source Type: research