Article
Combined targeted and untargeted high-resolution mass spectrometry analyses to investigate metabolic alterations in pompe disease.
Metabolomics : Official journal of the Metabolomic Society - 29 Mar 2023
de Moraes Mariana B M, de Souza Hygor M R, de Oliveira Maria L C, Peake Roy W A, Scalco Fernanda B, Garrett Rafael
Abstract excerpt
INTRODUCTION: Pompe disease is a rare, lysosomal disorder, characterized by intra-lysosomal glycogen accumulation due to an impaired function of α-glucosidase enzyme. The laboratory testing for Pompe is usually performed by enzyme activity, genetic test, or urine glucose tetrasaccharide (Glc4) screening by HPLC. Despite being a good preliminary marker, the Glc4 is not specific for Pompe. OBJECTIVE: The purpose of...
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