Results 101 to 110 of about 24,426,163 (152)

Instrumented assessment of gait disturbance in PMM2-CDG adults: a feasibility analysis

Orphanet Journal of Rare Diseases
Background Congenital disorders of glycosylation (CDG) are genetic diseases caused by impaired synthesis of glycan moieties linked to glycoconjugates.
Lara Cirnigliaro, Fabio Pettinato, Maria Stella Valle, Antonino Casabona, Agata Fiumara, Michele Vecchio, Valerio Amico, Renata Rizzo, Jaak Jaeken, Rita Barone, Matteo Cioni   +10 more
doaj   +1 more source

Efficient production of 2′-fucosyllactose from fructose through metabolically engineered recombinant Escherichia coli

Microbial Cell Factories
Background The biosynthesis of human milk oligosaccharides (HMOs) using several microbial systems has garnered considerable interest for their value in pharmaceutics and food industries.
Ran You, Lei Wang, Meirong Hu, Yong Tao
doaj   +1 more source

PHOSPHOMANNOMUTASE II AND ITS ASSOCIATED PATHOLOGY, CONGENITAL DISORDER OF GLYCOSYLATION ARE POTENTIAL TARGETS FOR THE THERAPY WITH PHARMACOLOGICAL CHAPERONES

, 2015
The most frequent glycosylation (CDG) disorder affecting the N-glycosylation pathway is caused by a deficiency of Phosphomannomutase (PMM2) the enzyme that isomerize Mannose-6-Phosphate.
G Andreotti, V Citro, MV Cubellis
core  

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

Plan d’action science ouverte de l’Université Rennes 2 [PDF]

Depuis l’adoption de la Charte Science ouverte de l’université Rennes 2 en 2021, l’écosystème national et international a continué son évolution vers une incitation toujours plus grande à l’ouverture des publications, des données et des codes logiciels ...
Université Rennes 2
core  

Glycomic Characterization of Induced Pluripotent Stem Cells Derived from a Patient Suffering from Phosphomannomutase 2 Congenital Disorder of Glycosylation (PMM2-CDG). [PDF]

Mol Cell Proteomics, 2016
Thiesler CT, Cajic S, Hoffmann D, Thiel C, van Diepen L, Hennig R, Sgodda M, Weiβmann R, Reichl U, Steinemann D, Diekmann U, Huber NM, Oberbeck A, Cantz T, Kuss AW, Körner C, Schambach A, Rapp E, Buettner FF.   +18 more
europepmc   +1 more source

A Novel N-Tetrasaccharide in Patients with Congenital Disorders of Glycosylation, Including Asparagine-Linked Glycosylation Protein 1, Phosphomannomutase 2, and Mannose Phosphate Isomerase Deficiencies. [PDF]

Clin Chem, 2016
Zhang W, James PM, Ng BG, Li X, Xia B, Rong J, Asif G, Raymond K, Jones MA, Hegde M, Ju T, Cummings RD, Clarkson K, Wood T, Boerkoel CF, Freeze HH, He M.   +16 more
europepmc   +1 more source

Integrated computational and experimental evaluation of natural products targeting PGM/AlgC and HisIE in multidrug-resistant respiratory pathogens. [PDF]

Front Microbiol
Wang Z, Lu W, Li B, Wang T, Liu Q, Lv Y, Han K, Li X.   +7 more
europepmc   +1 more source

Disease-specific growth charts capture characteristic growth patterns in children with PMM2 - CDG. [PDF]

Mol Genet Metab
Sarafoglou K, Lam C, Edmondson AC, Miller A, Starosta RT, Zeighami A, Horikoshi S, Vreugdenhil H, Scaglia F, Kozicz T, Tan QKG, Miller BS, Martínez-Duncker I, Berry GT, McWilliams P, Morava E, Addo Y.   +16 more
europepmc   +1 more source

Vaccination of children with inborn errors of metabolism: safety, immunogenicity, and practical implications. [PDF]

Eur J Pediatr
Lipiński P, Jaczewska M, Jackowska T.
europepmc   +1 more source