Results 121 to 130 of about 2,410 (179)

Albumin as a glycoprotein biomarker in congenital disorders of glycosylation. [PDF]

Mol Genet Metab
Garapati K, Jain A, Joshi N, Sachdeva GS, Nam D, Saraswat M, Pasupuleti RR, Schultz MJ, Kozicz T, Morava E, Pandey A.   +10 more
europepmc   +1 more source

Exploring a Circulating miRNA Signature for PMM2-CDG: Initial Insights Toward Diagnosis, Stratification, and Monitoring. [PDF]

J Inherit Metab Dis
Epifani F, Cabus L, Nolasco GA, Bolasell M, Pérez J, Alcalá A, Fernández P, Lizano E, Márquez G, Belmonte S, Carbonell-Sala S, Lagarde J, Curado J, Hernando-Davalillo C, Serrano M.   +14 more
europepmc   +1 more source

Intestinal Fucosylation: A Key Regulatory Hub in Homeostasis and Disease Pathogenesis. [PDF]

Biomolecules
Xu Z, Song D, Hu F, Liang Q, Zhang M, Lei C, Li J, Guo H, Deng Z, Yang Z.   +9 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

Treatment of Single Patient With PMM2-Congenital Disorder of Glycosylation With Govorestat (AT-007), an Aldose Reductase Inhibitor. [PDF]

JIMD Rep
Jalazo ER, Weisenfeld LA, Ligezka A, Perfetti R, Muenzer J.   +4 more
europepmc   +1 more source

Suspected Central Adrenal Insufficiency in a Patient with Phosphomannomutase 2-Congenital Disorder of Glycosylation. [PDF]

JCEM Case Rep
Ødum SF, Grønborg SW, Main KM, Klose M.   +3 more
europepmc   +1 more source

Stroke-like episodes and cerebellar syndrome in phosphomannomutase deficiency (PMM2-CDG): Evidence for hypoglycosylation-driven channelopathy

Stroke-like episodes (SLE) occur in phosphomannomutase deficiency (PMM2-CDG), and may complicate the course of channelopathies related to Familial Hemiplegic Migraine (FHM) caused by mutations in CACNA1A (encoding CaV2.1 channel).
Martínez Monseny, Antonio Federico, Pérez, Belén, Izquierdo Serra, Mercè, Serrano, Mercedes L., Macaya, Alfons, Pérez Dueñas, Belén, Cancho Candela, Ramón, Carrasco Marina, Ma Llanos, Montero, Raquel, Artuch, Rafael, Cuadras, Daniel, Fernández-Fernández, José Manuel, 1967-, López, Laura, García, Óscar, Edo, Albert, Gutiérrez-Solana, Luis González, Muchart, Jordi, Carrillo García, Julia, Pérez Cerdá, Celia, Ortigoza Escobar, Juan Darío   +19 more
core  

Unilateral Multicystic Dysplastic Kidney in a Fetus Associated With Parental Genetic and Environmental Risk Factors: A Case Report. [PDF]

Cureus
Khan Z, Jafri M, Lambroussis CG.
europepmc   +1 more source

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