Results 131 to 140 of about 25,010,716 (171)

Biochemical phenotype of a common disease-causing mutation and a possible therapeutic approach for the phosphomannomutase 2-associated disorder of glycosylation. [PDF]

Mol Genet Genomic Med, 2013
Andreotti G, Pedone E, Giordano A, Cubellis MV.   +3 more
europepmc   +1 more source

Multifactorial hypercoagulable state associated with a thrombotic phenotype in phosphomannomutase-2 congenital disorder of glycosylation (PMM2-CDG): Case report and brief review of the literature.

Thrombosis Research, 2019
Bertrand Lefrère, A. Stépanian, P. Charles, Geoffrey Foulon-Pinto, Nicolas Béranger, M. Alhenc‐Gelas, L. Drouet, V. Siguret   +7 more
semanticscholar   +1 more source

A novel PMCA3 mutation in an ataxic patient with hypomorphic phosphomannomutase 2 (PMM2) heterozygote mutations: Biochemical characterization of the pump defect.

Biochimica et Biophysica Acta - Molecular Basis of Disease, 2017
Mattia Vicario, Tito Calì, D. Cieri, F. Vallese, R. Bortolotto, R. Lopreiato, F. Zonta, M. Nardella, A. Micalizzi, D. Lefeber, E. Valente, E. Bertini, G. Zanotti, G. Zanni, M. Brini, E. Carafoli   +15 more
semanticscholar   +1 more source

Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2

Yearbook of Paediatric Endocrinology, 2018
O. R. Cabezas, S. Flanagan, H. Stanescu, E. García-Martínez, R. Caswell, H. Lango-Allen, M. Antón-Gamero, J. Argente, Anna-Marie Bussell, A. Brändli, C heshire, E. Crowne, Simona Dumitriu, R. Drynda, J. Hamilton-Shield, W. Hayes, Alexis Hofherr, D. Iancu, N. Issler, C. Jefferies, Peter M. Jones, Matthew B. Johnson, Anne Kesselheim, E. Klootwijk, Michael Koettgen, W. Lewis, J. Martos, M ozere, J. Norman, Patel, A. Parrish, C Pérez-erdá, J. Pozo, S. Rahman, N. Sebire, M. Tekman, P. Turnpenny, W. Hoff, Viering Dhhm, M. Weedon, Patricia D. Wilson, L. Guay-Woodford, R. Kleta, K. Hussain, S. Ellard, D. Bockenhauer   +45 more
semanticscholar   +1 more source

Corrigendum to: International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up (Journal of Inherited Metabolic Disease, (2019), 42, 1, (5-28), 10.1002/jimd.12024)

, 2019
R. Altassan, Romain Péanne, J. Jaeken, R. Barone, M. Bidet, D. Borgel, S. Brasil, D. Cassiman, A. Čechová, D. Coman, J. Corral, J. Correia, M. D. L. Morena-Barrio, P. Lonlay, V. Ferreira, C. Ferreira, A. Fiumara, R. Francisco, H. Freeze, S. Funke, T. Gardeitchik, M. Gert, Muriel Girad, M. Girós, S. Grünewald, T. Hernández-Caselles, T. Honzík, Marlen Hutter, D. Krasnewich, Christina Lam, J. Lee, D. Lefeber, D. Marques-da-Silva, Antonio Martínez, H. Moravej, K. Õunap, C. Pascoal, T. Pascreau, M. Patterson, D. Quelhas, K. Raymond, P. Sarkhail, M. Schiff, M. Seroczyńska, M. Serrano, N. Seta, J. Sykut-Cegielska, C. Thiel, F. Tort, M. Vals, P. Videira, P. Witters, R. Zeevaert, E. Morava   +53 more
semanticscholar   +1 more source

Impact of COVID-19 infection in patients with inherited metabolic diseases: a National Multicenter Study from the French IMDs Healthcare Network for Rare Diseases. [PDF]

Orphanet J Rare Dis
Douillard C, Poujois A, Belmatoug N, Lidove O, Leguy-Seguin V, Mauhin W, Gorce M, Cano A, Labrune P, Mazodier K, Wicker C, Maillot F, Brassier A, Guemann AS, Habes D, Abi-Warde MT, Redonnet-Vernhet I, Germain DP, Lavigne C, Khemiri A, Mention K, Dao M, Héron B, Berger MG, Lonlay P.   +24 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

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