title: Cobalamin C Deficiency-Associated Pigmentary Retinopathy.
authors.affiliation: Retina Consultants Ltd, Des Plaines, Illinois.
authors.forename: José María
authors.initials: JM
authors.lastname: Garcia-Gonzalez
authors.affiliation: Chicago Medical School, Rosalind Franklin University of Medicine and Science, North Chicago, Illinois.
authors.forename: Ashley E
authors.initials: AE
authors.lastname: Neiweem
authors.affiliation: Retina Consultants Ltd, Des Plaines, Illinois3Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago.
authors.forename: Michael A
authors.initials: MA
authors.lastname: Grassi
mesh_terms: D002352:Carrier Proteins / Q000235:genetics; D002648:Child; D004596:Electroretinography; D005260:Female; D006712:Homocystinuria / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D009154:Mutation; D010088:Oxidoreductases; D012174:Retinitis Pigmentosa / Q000175:diagnosis* / Q000235:genetics; D014806:Vitamin B 12 Deficiency / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics
chemical_list: D002352:Carrier Proteins; C508359:MMACHC protein, human; D010088:Oxidoreductases