Journal of Obesity and Metabolism
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Romana Prusa

Department of Children and Adolescent Medicine, Medical University of Vienna, Vienna, Austria
Publications

Importance of Including Acid Sphingomyelinase Deficiency (ASMD) in Patients Suspected of Having Gaucher Disease in the Differential Diagnosis

The clinical appearance of sphingolipidosis drives frequently to misclassification between corrosive sphingomyelinase inadequacy (ASMD) and Gaucher sickness. We looked into a group of 31,838 people from 61 countries who were clinically suspected to have Gaucher disease in this prospective, multicenter study. Tandem mass spectrometry was used to mea... Read More»

Romana Prusa

: J Obes Metab 2023, 6:165

10.4172/jomb.1000165

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