Taurine supplementation as a potential therapy for progressive retinal degeneration due to biallelic pathogenic variants in the Taurine transporter SLC6A6

被引：0
|
作者：
Ranza, E. [1 ,2 ,3 ]
Ansar, M. [1 ]
Shetty, M. [4 ]
Paracha, S. A. [5 ]
Sarwar, M. T. [5 ]
Kern, I. [6 ]
Farooq, O. [7 ]
Pournaras, C. J. [8 ]
Malcles, A. [9 ]
Santoni, F. A. [1 ,10 ]
Makrythanasis, P. [1 ,11 ]
Ahmed, J. [5 ]
Henry, K. [4 ]
Antonarakis, S. E. [1 ,2 ,12 ]
机构：
[1] Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland
[2] Univ Hosp Geneva, Serv Genet Med, Geneva, Switzerland
[3] Swiss Inst Genom Med, Medigenome, Geneva, Switzerland
[4] Univ North Dakota, Sch Med & Hlth Sci, Dept Biomed Sci, Grand Forks, ND USA
[5] Khyber Med Univ, Inst Basic Med Sci, Peshawar, Pakistan
[6] Geneva Univ Hosp, Childrens Hosp, Pediat Subspecialties Serv, Pediat Nephrol & Metab Unit, Geneva, Switzerland
[7] Bahria Univ, Med & Dent Coll, Karachi, Pakistan
[8] Hirslanden Clin Colline, Geneva, Switzerland
[9] Univ Hosp Geneva, Dept Ophthalmol, Geneva, Switzerland
[10] Univ Hosp Lausanne, Dept Endocrinol Diabet & Metab, Lausanne, Switzerland
[11] Acad Athens, Biomed Res Fdn, Athens, Greece
[12] iGE3 Inst Genet & Genom Geneva, Geneva, Switzerland
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2019年 / 27卷
关键词：
D O I：
暂无
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
C13.6
引用
收藏
页码：1122 / 1123
页数：2
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