Litcius/Paper detail

Misdiagnosis in mucopolysaccharidoses

Karolina Wiśniewska, Jakub Wolski, Lidia Gaffke, Zuzanna Cyske, Karolina Pierzynowska, Grzegorz Węgrzyn

2022Journal of Applied Genetics35 citationsDOI

Topics & Concepts

MucopolysaccharidosisMuscular dystrophyHuman geneticsBiologyDiseaseMucolipidosisRicketsLysosomal storage disordersBioinformaticsNeurologyPeroxisomal disorderLysosomal storage diseaseMucopolysaccharidosis IPediatricsPathologyMedicineInternal medicineEnzyme replacement therapyEndocrinologyGeneticsNeuroscienceVitamin D and neurologyPeroxisomeEnzymeReceptorBiochemistryGeneLysosomal Storage Disorders ResearchGlycogen Storage Diseases and MyoclonusTrypanosoma species research and implications