Results 21 to 30 of about 211 (74)

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

A liposomal carbohydrate vaccine, adjuvanted with an NKT cell agonist, induces rapid and enhanced immune responses and antibody class switching. [PDF]

J Nanobiotechnology, 2023
Jia JX, Peng SL, Kalisa NY, Chao Q, Zhou Z, Gao XD, Wang N.   +6 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

Interplay of Impaired Cellular Bioenergetics and Autophagy in PMM2-CDG. [PDF]

Genes (Basel), 2023
Ligezka AN, Budhraja R, Nishiyama Y, Fiesel FC, Preston G, Edmondson A, Ranatunga W, Van Hove JLK, Watzlawik JO, Springer W, Pandey A, Morava E, Kozicz T.   +12 more
europepmc   +1 more source

Goal attainment in PMM2-CDG: A new approach measuring meaningful clinical outcomes. [PDF]

Mol Genet Metab
Verberkmoes S, Mazza GL, Edmondson AC, Scaglia F, Horikoshi S, Kuschel B, Janssen MCH, Mousa J, Larson A, Shah R, McDonald G, Sarafoglou K, Berry G, Kozicz T, Lam C, Morava E.   +15 more
europepmc   +1 more source

Hyperinsulinism May Be Underreported in Hypoglycemic Patients with Phosphomannomutase 2 Deficiency [PDF]

J Clin Res Pediatr Endocrinol, 2022
Vurallı D, Yıldız Y, Ozon A, Dursun A, Gönç N, Tokatlı A, Sivri HS, Alikaşifoğlu A.   +7 more
europepmc   +1 more source

Phosphomannomutase 1 restrains adipose thermogenic programming via inosine signaling. [PDF]

Mol Metab
Ye Y, Xu R, Liu T, Su Y, Lu X, Sun J, Zhao J, Lu Y, Yang Y, Han J.   +9 more
europepmc   +1 more source

Cysteine Pathogenic Variants of PMM2 Are Sensitive to Environmental Stress with Loss of Structural Stability. [PDF]

Oxid Med Cell Longev, 2023
Yu F, Lin L, Sun J, Pan J, Liao Y, Pan Y, Bai G, Ma L, Mao J, Hu L.   +9 more
europepmc   +1 more source

Causes of mortality in the congenital disorders of glycosylation. [PDF]

Mol Genet Metab
Alharbi H, Horikoshi S, Jenkins SM, Scaglia F, Lam C, Morava E, Larson A, Edmondson AC.   +7 more
europepmc   +1 more source

<i>In Silico</i> Analysis of Phosphomannomutase-2 Dimer Interface Stability and Heterodimerization with Phosphomannomutase-1. [PDF]

Molecules
Hay Mele B, Bovenzi J, Andreotti G, Cubellis MV, Monticelli M.   +4 more
europepmc   +1 more source