Diagnostics
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Importance of including ASMD diagnostics in suspected Gaucher patients
Acid Sphingomyelinase deficiency (ASMD), also known as Niemann-Pick Type A/B, is characterized by an enzyme deficiency that leads to the toxic accumulation of sphingomyelin. “Recent… Read more
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Hemoglobinopathies and β-Thalassemia: Investigating High-Res Mass Spectrometry
Early diagnosis of hemoglobin disorders and Thalassemias are become more important due to a high carrier frequency and ease of global migration. In a prospective… Read more