Mucolipidosis type II and type III: a systematic review of 843 published cases
Emma J. Dogterom, Margreet A.E.M. Wagenmakers, Martina Wilke, Serwet Demirdas, Nicole Muschol, Sandra Pohl, Jan C. van der Meijden, Dimitris Rizopoulos, Ans T. van der Ploeg, Esmée Oussoren
Topics & Concepts
Natural historyMucolipidosisMedicinePediatricsGenotypePhenotypeInternal medicineBiologyGeneticsGeneBiochemistryEnzymeCalcium signaling and nucleotide metabolismLysosomal Storage Disorders ResearchPhosphodiesterase function and regulation