α-Mannosidosis - An underdiagnosed lysosomal storage disease in individuals with an ‘MPS-like’ phenotype
Thomas Wiesinger, Markus Schwarz, Thomas P. Mechtler, Sandra Liebmann‐Reindl, Berthold Streubel, David C. Kasper
Topics & Concepts
Dried blood spotLysosomal storage diseaseEnzyme replacement therapyMedicineNewborn screeningClinical phenotypeDiseaseGenetic testingLysosomal storage disordersFabry diseasePhenotypeGenetic diagnosisDried bloodCohortPediatricsPathologyInternal medicineBiologyGeneticsGeneChemistryChromatographyLysosomal Storage Disorders ResearchCystic Fibrosis Research AdvancesTrypanosoma species research and implications