Perinatal lethal form of Gaucher disease. Clinical and molecular characterization of a Greek case.
Michelakakis
Helen
H
Dimitriou
Evangelia
E
Moraitou
Marina
M
Valari
Mantoula
M
Yatrakou
Erasmia
E
Mitsiadi
Vassiliki
V
Cozar
Monica
M
Vilageliu
Lluisa
L
Grinberg
Daniel
D
Karachristou
Korina
K
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
D006596:Hexosaminidases; C086400:chitotriosidase; D001617:beta-Glucosidase