Effects of miglustat treatment in a patient affected by an atypical form of Tangier disease

BACKGROUND: Tangier disease (TD) is a rare autosomal recessive disorder, resulting from mutations in the ATP binding cassette transporter (ABCA1) gene. The deficiency of ABCA1 protein impairs high density lipoprotein (HDL) synthesis and cholesterol esters trafficking. CASE REPORT: A 58 year-old fema...

全面介紹

Na minha lista:
書目詳細資料
Main Authors: Sechi, Annalisa, Dardis, Andrea, Zampieri, Stefania, Rabacchi, Claudio, Zanoni, Paolo, Calandra, Sebastiano, De Maglio, Giovanna, Pizzolitto, Stefano, Maruotti, Valerio, Di Muzio, Antonio, Platt, Frances, Bembi, Bruno
格式: Artigo
語言:Inglês
出版: BioMed Central 2014
主題:
Research
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC4172812/
https://ncbi.nlm.nih.gov/pubmed/25227739
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-014-0143-3
標簽: 添加標簽
沒有標簽, 成為第一個標記此記錄!

相似書籍