Galactose epimerase deficiency: lessons from the GalNet registry.
Orphanet Journal Of Rare Diseases
Derks, Britt B; Demirbas, Didem D; Arantes, Rodrigo R RR; Banford, Samantha S; Burlina, Alberto B AB; Cabrera, Analía A; Chiesa, Ana A; Couce, M Luz ML; Dionisi-Vici, Carlo C; Gautschi, Matthias M; Grünewald, Stephanie S; Morava, Eva E; Möslinger, Dorothea D; Scholl-Bürgi, Sabine S; Skouma, Anastasia A; Stepien, Karolina M KM; Timson, David J DJ; Berry, Gerard T GT; Rubio-Gozalbo, M Estela ME
A Case of UDP-Galactose 4'-Epimerase Deficiency Associated with Dyshematopoiesis and Atrioventricular Valve Malformations: An Exceptional Clinical Phenotype Explained by Altered N-Glycosylation with Relative Preservation of the Leloir Pathway.
Molecular Syndromology
Febres-Aldana, Christopher A CA; Pelaez, Liset L; Wright, Meredith S MS; Maher, Ossama M OM; Febres-Aldana, Anthony J AJ; Sasaki, Jun J; Jayakar, Parul P; Jayakar, Anuj A; Diaz-Barbosa, Magaly M; Janvier, Michelin M; Totapally, Bala B; Salyakina, Daria D; Galvez-Silva, Jorge R JR
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Nature Communications
Fragoza, Robert R; Das, Jishnu J; Wierbowski, Shayne D SD; Liang, Jin J; Tran, Tina N TN; Liang, Siqi S; Beltran, Juan F JF; Rivera-Erick, Christen A CA; Ye, Kaixiong K; Wang, Ting-Yi TY; Yao, Li L; Mort, Matthew M; Stenson, Peter D PD; Cooper, David N DN; Wei, Xiaomu X; Keinan, Alon A; Schimenti, John C JC; Clark, Andrew G AG; Yu, Haiyuan H
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Publication Date: 2019-02-07
Variant appearance in text: GALE: K257R; rs28940884
Pugh, Trevor J TJ; Morozova, Olena O; Attiyeh, Edward F EF; Asgharzadeh, Shahab S; Wei, Jun S JS; Auclair, Daniel D; Carter, Scott L SL; Cibulskis, Kristian K; Hanna, Megan M; Kiezun, Adam A; Kim, Jaegil J; Lawrence, Michael S MS; Lichenstein, Lee L; McKenna, Aaron A; Pedamallu, Chandra Sekhar CS; Ramos, Alex H AH; Shefler, Erica E; Sivachenko, Andrey A; Sougnez, Carrie C; Stewart, Chip C; Ally, Adrian A; Birol, Inanc I; Chiu, Readman R; Corbett, Richard D RD; Hirst, Martin M; Jackman, Shaun D SD; Kamoh, Baljit B; Khodabakshi, Alireza Hadj AH; Krzywinski, Martin M; Lo, Allan A; Moore, Richard A RA; Mungall, Karen L KL; Qian, Jenny J; Tam, Angela A; Thiessen, Nina N; Zhao, Yongjun Y; Cole, Kristina A KA; Diamond, Maura M; Diskin, Sharon J SJ; Mosse, Yael P YP; Wood, Andrew C AC; Ji, Lingyun L; Sposto, Richard R; Badgett, Thomas T; London, Wendy B WB; Moyer, Yvonne Y; Gastier-Foster, Julie M JM; Smith, Malcolm A MA; Guidry Auvil, Jaime M JM; Gerhard, Daniela S DS; Hogarty, Michael D MD; Jones, Steven J M SJ; Lander, Eric S ES; Gabriel, Stacey B SB; Getz, Gad G; Seeger, Robert C RC; Khan, Javed J; Marra, Marco A MA; Meyerson, Matthew M; Maris, John M JM
Publication Date: 2013-03
Variant appearance in text: GALE: 770A>G; K257R; rs28940884
Epimerase-deficiency galactosemia is not a binary condition.
American Journal Of Human Genetics
Openo, Kimberly K KK; Schulz, Jenny M JM; Vargas, Claudia A CA; Orton, Corey S CS; Epstein, Michael P MP; Schnur, Rhonda E RE; Scaglia, Fernando F; Berry, Gerard T GT; Gottesman, Gary S GS; Ficicioglu, Can C; Slonim, Alfred E AE; Schroer, Richard J RJ; Yu, Chunli C; Rangel, Vanessa E VE; Keenan, Jennifer J; Lamance, Kerri K; Fridovich-Keil, Judith L JL