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Papers of the Week

2020 Jul

Ann Transl Med



GLA missense and promoter variants co-segregating in a Chinese family with Fabry disease.


Dong Z-Y, Wang Q, Lin S-P, Chen P, Liu J-N, Liu S-W, Cai G-Y, Chen X-M, Hong Q
Ann Transl Med. 2020 Jul; 8(14):865.
PMID: 32793709.


Fabry disease (FD) is an X-linked recessive inheritance lysosomal storage disorder due to mutations in the GLA gene leading to deficiency of lysosomal α-galactosidase A (α-Gal A) and has a wide range of clinical presentations. Over 900 GLA gene mutations are currently known and of those most are thought not to be clinically significant, some with doubtful clinical significance, posing diagnostic and prognostic difficulties for the clinician.