title: TPP1 deficiency: Rare cause of isolated childhood-onset progressive ataxia.
authors.affiliation: From Boston Children's Hospital/Massachusetts General Hospital, Harvard Medical School (M.E.D.); Rady Children's Hospital (M.E.D., J.F.), University of California, San Diego; and Massachusetts General Hospital, Harvard Medical School (K.B.S.), Boston. marisela.dy@childrens.harvard.edu.
authors.forename: Marisela E
authors.initials: ME
authors.lastname: Dy
authors.affiliation: From Boston Children's Hospital/Massachusetts General Hospital, Harvard Medical School (M.E.D.); Rady Children's Hospital (M.E.D., J.F.), University of California, San Diego; and Massachusetts General Hospital, Harvard Medical School (K.B.S.), Boston.
authors.forename: Katherine B
authors.initials: KB
authors.lastname: Sims
authors.affiliation: From Boston Children's Hospital/Massachusetts General Hospital, Harvard Medical School (M.E.D.); Rady Children's Hospital (M.E.D., J.F.), University of California, San Diego; and Massachusetts General Hospital, Harvard Medical School (K.B.S.), Boston.
authors.forename: Jennifer
authors.initials: J
authors.lastname: Friedman
mesh_terms: D017668:Age of Onset; D001259:Ataxia / Q000175:diagnosis / Q000209:etiology / Q000235:genetics*; D002648:Child; D004152:Dipeptidyl-Peptidases and Tripeptidyl-Peptidases / Q000172:deficiency / Q000235:genetics* / Q000378:metabolism; D005260:Female; D006801:Humans; D009472:Neuronal Ceroid-Lipofuscinoses / Q000378:metabolism; D013132:Spinocerebellar Degenerations / Q000175:diagnosis / Q000235:genetics; D000091346:Tripeptidyl-Peptidase 1
chemical_list: D000091346:Tripeptidyl-Peptidase 1; D004152:Dipeptidyl-Peptidases and Tripeptidyl-Peptidases; C000717267:TPP1 protein, human