Results 71 to 80 of about 233 (96)

A comprehensive update of genotype-phenotype correlations in PMM2-CDG: insights from molecular and structural analyses. [PDF]

Orphanet J Rare Dis
Oliveira T, Ferraz R, Azevedo L, Quelhas D, Carneiro J, Jaeken J, Sousa SF.   +6 more
europepmc   +1 more source

Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDG. [PDF]

Hum Mutat
Pajusalu S, Vals MA, Serrano M, Witters P, Cechova A, Honzik T, Edmondson AC, Ficicioglu C, Barone R, De Lonlay P, Bérat CM, Vuillaumier-Barrot S, Lam C, Patterson MC, Janssen MCH, Martins E, Quelhas D, Sykut-Cegielska J, Mousa J, Urreizti R, McWilliams P, Vernhes F, Plotkin H, Morava E, Õunap K.   +24 more
europepmc   +1 more source

Unsuccessful intravenous D-mannose treatment in PMM2-CDG. [PDF]

Orphanet J Rare Dis, 2019
Grünert SC, Marquardt T, Lausch E, Fuchs H, Thiel C, Sutter M, Schumann A, Hannibal L, Spiekerkoetter U.   +8 more
europepmc   +1 more source

A complement C4-derived glycopeptide is a biomarker for PMM2-CDG. [PDF]

JCI Insight
Garapati K, Budhraja R, Saraswat M, Kim J, Joshi N, Sachdeva GS, Jain A, Ligezka AN, Radenkovic S, Ramarajan MG, Udainiya S, Raymond K, He M, Lam C, Larson A, Edmondson AC, Sarafoglou K, Larson NB, Freeze HH, Schultz MJ, Kozicz T, Morava E, Pandey A.   +22 more
europepmc   +1 more source

Gene variants identified by whole-exome sequencing in 33 French women with premature ovarian insufficiency. [PDF]

J Assist Reprod Genet, 2019
Yang X, Touraine P, Desai S, Humphreys G, Jiang H, Yatsenko A, Rajkovic A.   +6 more
europepmc   +1 more source

Differential contributions of choline phosphotransferases CPT1 and CEPT1 to the biosynthesis of choline phospholipids

Journal of Lipid Research, 2021
Yasuhiro Horibata
exaly  

Mechanism-Based Inactivation of Bacterial Aminoglycoside 3'-Phosphotransferases

Journal of the American Chemical Society, 1995
Shahriar Mobashery
exaly  

Structural Framework for the Protein Kinase Family

Annual Review of Cell Biology, 1992
Lynn F Ten Eyck, Susan S Taylor
exaly  

Phosphoryl transfer by aminoglycoside 3′-phosphotransferases and manifestation of antibiotic resistance

Bioorganic Chemistry, 2005
Choon Kim, Shahriar Mobashery
exaly