Results 101 to 110 of about 2,264 (140)

Goal attainment in PMM2-CDG: A new approach measuring meaningful clinical outcomes. [PDF]

Mol Genet Metab
Verberkmoes S, Mazza GL, Edmondson AC, Scaglia F, Horikoshi S, Kuschel B, Janssen MCH, Mousa J, Larson A, Shah R, McDonald G, Sarafoglou K, Berry G, Kozicz T, Lam C, Morava E.   +15 more
europepmc   +1 more source

Nitrogen-modulated intercropping boosts yield and quality in Codonopsis pilosula. [PDF]

BMC Plant Biol
Xing Y, Huang M, Miao H, Wang Q, Zhang Q, Yang Z, Huang G.   +6 more
europepmc   +1 more source

Faculty Opinions recommendation of Yeast Models of Phosphomannomutase 2 Deficiency, a Congenital Disorder of Glycosylation.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature, 2019
openaire   +2 more sources

Synthesis of 2'-fucosyllactose using multi-enzyme cascade with cofactor regeneration. [PDF]

Sci Rep
Cao C, Bai Y, Zhang M, Khan SS, Ji Y, Liu L.   +5 more
europepmc   +1 more source

PMM2 interacts with TRIM28 to recruit E2F4 and promote KIFC3-mediated tumor glycolysis and colorectal cancer progression. [PDF]

Oncogene
Peng Z, Ma B, Song Z, Zhao Y, Yang Y, Liu Y, Li C, Zhang Y.   +7 more
europepmc   +1 more source

Congenital disorder of glycosylation type IIb in an infant with developmental and epileptic encephalopathy. [PDF]

BMJ Case Rep
Shwetabh RK, Singh A, Mandal K, Naranje K, Verma A.   +4 more
europepmc   +1 more source

The clinical spectrum of phosphomannomutase 2 deficiency (CDG-Ia)

Biochimica Et Biophysica Acta - Molecular Basis of Disease, 2009
Congenital disorders of glycosylation are a clinically and genetically heterogeneous group of disorders resulting from abnormal glycosylation of various glycoconjugates. The first description of congenital disorders of glycosylation was published in the early 80s and once screening tests for glycosylation disorders (CDGs) became readily available, CDG ...
Stephanie Grunewald
exaly   +4 more sources