title: Adult polyglucosan body disease with GBE1 haploinsufficiency and concomitant frontotemporal lobar degeneration.
authors.affiliation: Department of Pathology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
authors.forename: Esther N
authors.initials: EN
authors.lastname: Bit-Ivan
authors.forename: Kyung-Hwa
authors.initials: KH
authors.lastname: Lee
authors.forename: Darren
authors.initials: D
authors.lastname: Gitelman
authors.forename: Sandra
authors.initials: S
authors.lastname: Weintraub
authors.forename: Marsel
authors.initials: M
authors.lastname: Mesulam
authors.forename: Rosa
authors.initials: R
authors.lastname: Rademakers
authors.forename: Adrian M
authors.initials: AM
authors.lastname: Isaacs
authors.forename: Kimmo J
authors.initials: KJ
authors.lastname: Hatanpaa
authors.forename: Charles L
authors.initials: CL
authors.lastname: White
authors.forename: Qinwen
authors.initials: Q
authors.lastname: Mao
authors.forename: Orhan
authors.initials: O
authors.lastname: Akman
authors.forename: Salvatore
authors.initials: S
authors.lastname: DiMauro
authors.forename: Eileen H
authors.initials: EH
authors.lastname: Bigio
mesh_terms: D000328:Adult; D000368:Aged; D001921:Brain / Q000378:metabolism / Q000473:pathology; D005260:Female; D057174:Frontotemporal Lobar Degeneration / Q000150:complications*; D006004:Glycogen Debranching Enzyme System / Q000235:genetics*; D006008:Glycogen Storage Disease / Q000150:complications* / Q000235:genetics* / Q000473:pathology*; D057895:Haploinsufficiency; D006801:Humans; D008297:Male; D009422:Nervous System Diseases / Q000150:complications* / Q000235:genetics* / Q000473:pathology*
chemical_list: D006004:Glycogen Debranching Enzyme System; C577876:GBE1 protein, human
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