Publications:

Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: GLA: K213N

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

Pilot study of newborn screening for six lysosomal storage diseases using Tandem Mass Spectrometry.

Molecular Genetics And Metabolism

Elliott, Susan S; Buroker, Norman N; Cournoyer, Jason J JJ; Potier, Anna M AM; Trometer, Joseph D JD; Elbin, Carole C; Schermer, Mack J MJ; Kantola, Jaana J; Boyce, Aaron A; Turecek, Frantisek F; Gelb, Michael H MH; Scott, C Ronald CR

Publication Date: 2016-08

Variant appearance in text: GLA: K213N

PubMed Link: 27238910

Variant Present in the following documents:

• Main text
• nihms849461.pdf

View BVdb publication page

Toward a consensus in the laboratory diagnostics of Fabry disease - recommendations of a European expert group.

Journal Of Inherited Metabolic Disease

Gal, Andreas A; Hughes, Derralynn A DA; Winchester, Bryan B

Publication Date: 2011-04

Variant appearance in text: GLA: Lys213Asn

PubMed Link: 21229318

Variant Present in the following documents:

• Main text
• 10545_2010_Article_9261.pdf

View BVdb publication page