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Applications of iPSC-derived models of Gaucher disease

  
@article{ATM8171,
	author = {Daniel Borger and Elma Aflaki and Ellen Sidransky},
	title = {Applications of iPSC-derived models of Gaucher disease},
	journal = {Annals of Translational Medicine},
	volume = {3},
	number = {19},
	year = {2015},
	keywords = {},
	abstract = {Gaucher disease (GD) is an autosomal recessive disorder caused by loss-of-function mutations in the GBA1 gene, which codes for the lysosomal hydrolase glucocerebrosidase (GCase). GCase deficiency leads to accumulation of un-metabolized glycolipid substrates, primarily in cells of the macrophage lineage. GD usually manifests with visceral, hematological, and skeletal involvement, and common symptoms include hepatosplenomegaly, anemia, thrombocytopenia, and osteopenia. More severe enzyme deficiency can also lead to neuronal glycolipid accumulation and central nervous system symptoms.},
	issn = {2305-5847},	url = {http://atm.amegroups.com/article/view/8171}
}