Results 121 to 130 of about 3,871 (190)

Clinical and genetic characterization of congenital disorders of glycosylation in 20 Chinese patients. [PDF]

Orphanet J Rare Dis
Zhao P, Tan L, Meng Q, Zhang L, Huang Y, Zhang X, Hu Y, Zhou S, He X.   +8 more
europepmc   +1 more source

A Mild Ataxia-Dominant Phenotype of Phosphomannomutase 2-Congenital Disorder of Glycosylation in a Tunisian Family: Broadening the Geographical Scope. [PDF]

J Mov Disord
Zouari R, Hlioui L, Saied MZ, Ben Mohamed D, Ben Sassi S, Amouri R.   +5 more
europepmc   +1 more source

Investigation of the Clinical and Genetic Spectrum of PMM2-CDG: Insights from a Family with a Novel Variant and Previous Studies. [PDF]

Arch Iran Med
Alagha P, Akhtarkhavari T, Shokouhian E, Ghodratpour F, Arzhangi S, Najmabadi H, Kahrizi K.   +6 more
europepmc   +1 more source

Letter to the Editor. Multifaceted approaches for the treatment of stroke and venous thrombosis in PMM2-congenital glycosilation disorder. [PDF]

J Neurosurg Case Lessons
Finsterer J.
europepmc   +1 more source

Dynamicasome-a molecular dynamics-guided and AI-driven pathogenicity prediction catalogue for all genetic mutations. [PDF]

Commun Biol
Islam NN, Coban MA, Fuller JM, Weber C, Chitale R, Jussila B, Brock TJ, Tao C, Caulfield TR.   +8 more
europepmc   +1 more source

Defeitos congénitos de glicosilação (cdg) em portugal: a ponta do iceberg [PDF]

, 2014
Jaeken, J, Lacerda, L, Laranjeira, F, Matthijs, G, Quelhas, Dulce, Sousa, D   +5 more
core  

Zebrafish models for congenital disorders of glycosylation (CDG): a systematic review. [PDF]

Orphanet J Rare Dis
Gandoy-Fieiras N, Quiroga MI, Sánchez L.   +2 more
europepmc   +1 more source

Short report: Targeted analysis of whole exome sequencing data in Indian cryptogenic stroke patients. [PDF]

PLoS One
Dev P, Blackwell JM, Kumar R, Mishra V, Pathak A.   +4 more
europepmc   +1 more source

PMm2 ASIC: PARISROC

, 2008
Martin-Chassard, G., Conforti, S., Dulucq, F., de La Taille, C., Wei, W.   +4 more
openaire   +1 more source

Are viral vector-mediated therapies compatible with aberrant glycosylation? [PDF]

Mol Ther Methods Clin Dev
Muffels IJJ, Budhraja R, Radenkovic S, Shah R, Pandey A, Morava E, Kozicz T.   +6 more
europepmc   +1 more source