title: Blueberry muffin rash and thrombocytopenia in a newborn with mucolipidosis type II (I-cell disease) masquerading as congenital infections.
authors.forename: Joseph
authors.initials: J
authors.lastname: Ting
authors.forename: Ori
authors.initials: O
authors.lastname: Hochwald
authors.forename: Nicholas
authors.initials: N
authors.lastname: Au
authors.forename: Saadet
authors.initials: S
authors.lastname: Mercimek-Mahmutoglu
mesh_terms: D003937:Diagnosis, Differential; D005076:Exanthema / Q000209:etiology*; D005260:Female; D006596:Hexosaminidases / Q000097:blood; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000175:diagnosis; D008214:Lymphocytes / Q000473:pathology; D009081:Mucolipidoses / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D013921:Thrombocytopenia / Q000209:etiology*; D017855:Transferases (Other Substituted Phosphate Groups) / Q000235:genetics
chemical_list: D017855:Transferases (Other Substituted Phosphate Groups); C511050:GNPTAB protein, human; D006596:Hexosaminidases