title: Perinatal lethal form of Gaucher disease. Clinical and molecular characterization of a Greek case.
authors.forename: Helen
authors.initials: H
authors.lastname: Michelakakis
authors.forename: Evangelia
authors.initials: E
authors.lastname: Dimitriou
authors.forename: Marina
authors.initials: M
authors.lastname: Moraitou
authors.forename: Mantoula
authors.initials: M
authors.lastname: Valari
authors.forename: Erasmia
authors.initials: E
authors.lastname: Yatrakou
authors.forename: Vassiliki
authors.initials: V
authors.lastname: Mitsiadi
authors.forename: Monica
authors.initials: M
authors.lastname: Cozar
authors.forename: Lluisa
authors.initials: L
authors.lastname: Vilageliu
authors.forename: Daniel
authors.initials: D
authors.lastname: Grinberg
authors.forename: Korina
authors.initials: K
authors.lastname: Karachristou
mesh_terms: D001921:Brain / Q000473:pathology; D004252:DNA Mutational Analysis; D003643:Death; D004452:Echocardiography; D005260:Female; D005776:Gaucher Disease / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology*; D006115:Greece; D006596:Hexosaminidases / Q000097:blood; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D012867:Skin / Q000473:pathology; D001617:beta-Glucosidase / Q000378:metabolism
chemical_list: D006596:Hexosaminidases; C086400:chitotriosidase; D001617:beta-Glucosidase