Results 31 to 40 of about 211 (74)

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

A Bifunctional Phosphoglucomutase/Phosphomannomutase from <i>Thermococcus kodakarensis</i>: Biophysical Analysis and Cryo-EM Structure. [PDF]

Biomolecules
Naz Z, Rathore I, Saleem M, Rahman M, Wlodawer A, Rashid N.   +5 more
europepmc   +1 more source

Biophysical Characterization of a Novel Phosphopentomutase from the Hyperthermophilic Archaeon Thermococcus kodakarensis. [PDF]

Int J Mol Sci
Naz Z, Lubkowski J, Saleem M, Aslam M, Rahman M, Wlodawer A, Rashid N.   +6 more
europepmc   +1 more source

[Advances in the diagnosis and treatment of phosphomannomutase 2 deficiency]. [PDF]

Zhongguo Dang Dai Er Ke Za Zhi, 2023
Zhou SY.
europepmc   +1 more source

Targeted metabolomic evaluation of peripheral blood mononucleated cells from patients with PMM2-CDG. [PDF]

Sci Rep
Mangione R, Cirnigliaro L, Saab MW, Pettinato F, Barbato A, Distefano A, Spina E, Lazzarino G, Volti GL, Longhitano L, Tibullo D, Pittalà A, Giallongo C, Di Pietro V, Tabbi G, Longo SA, Graziani A, Tavazzi B, Amorini AM, Lazzarino G, Barone R.   +20 more
europepmc   +1 more source

Evaluation of Cell Models to Study Monocyte Functions in PMM2 Congenital Disorders of Glycosylation. [PDF]

Front Immunol, 2022
de Haas P, de Jonge MI, Koenen HJPM, Joosten B, Janssen MCH, de Boer L, Hendriks WJAJ, Lefeber DJ, Cambi A.   +8 more
europepmc   +1 more source

Phosphomannomutase 2-congenital disorder of glycosylation: exploring the role of N-glycosylation on the endocrine axes. [PDF]

Front Endocrinol (Lausanne)
Del Medico G, Ferri L, Procopio E, Annibalini G, Barbieri E, Barone R, Guerrini R, Morrone A, Stagi S.   +8 more
europepmc   +1 more source

Patient reported outcomes for phosphomannomutase 2 congenital disorder of glycosylation (PMM2-CDG): listening to what matters for the patients and health professionals. [PDF]

Orphanet J Rare Dis, 2022
Pascoal C, Ferreira I, Teixeira C, Almeida E, Slade A, Brasil S, Francisco R, Ligezka AN, Morava E, Plotkin H, Jaeken J, Videira PA, Barros L, Dos Reis Ferreira V.   +13 more
europepmc   +1 more source

Immunopathology in PMM2-CDG: Defective glycosylation impact in the TNFα -TNFR1 signalling pathway. [PDF]

Front Immunol
Pascoal C, Granjo P, Kodríková R, Falcão M, Santos AC, Teodoro I, Pakanová Z, Nemčovič M, Mucha J, Castro-Caldas M, Grosso AR, Dos Reis Ferreira V, Videira PA.   +12 more
europepmc   +1 more source

Neurodevelopmental profiles of 14 individuals with phosphomannomutase deficiency (PMM2-CDG). [PDF]

J Inherit Metab Dis
Weixel T, Adedipe D, Muldoon G, Lam C, Krasnewich D, Thurm A, Wolfe L.   +6 more
europepmc   +1 more source