Results 61 to 70 of about 582 (102)

Kinetic studies of allosteric phosphotransferases [PDF]

, 2018
Schramm, Vern Lee
core   +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

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

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

Dietary mannose supplementation in phosphomannomutase 2 deficiency (PMM2-CDG). [PDF]

Orphanet J Rare Dis, 2020
Taday R, Grüneberg M, DuChesne I, Reunert J, Marquardt T.   +4 more
europepmc   +1 more source

In Vitro Fertilisation (IVF) Associated with Preimplantation Genetic Testing for Monogenic Diseases (PGT-M) in a Romanian Carrier Couple for Congenital Disorder of Glycosylation Type Ia (CDG-Ia): A Case Report. [PDF]

Genes (Basel), 2020
Doroftei B, Nemtanu L, Ilie OD, Simionescu G, Ivanov I, Anton E, Puiu M, Maftei R.   +7 more
europepmc   +1 more source

Instrumented assessment of gait disturbance in PMM2-CDG adults: a feasibility analysis. [PDF]

Orphanet J Rare Dis
Cirnigliaro L, Pettinato F, Valle MS, Casabona A, Fiumara A, Vecchio M, Amico V, Rizzo R, Jaeken J, Barone R, Cioni M.   +10 more
europepmc   +1 more source

Nonimmune hydrops fetalis and congenital disorders of glycosylation: A systematic literature review. [PDF]

J Inherit Metab Dis, 2020
Makhamreh MM, Cottingham N, Ferreira CR, Berger S, Al-Kouatly HB.   +4 more
europepmc   +1 more source

Factor XII in PMM2-CDG patients: role of N-glycosylation in the secretion and function of the first element of the contact pathway. [PDF]

Orphanet J Rare Dis, 2020
López-Gálvez R, de la Morena-Barrio ME, López-Lera A, Pathak M, Miñano A, Serrano M, Borgel D, Roldán V, Vicente V, Emsley J, Corral J.   +10 more
europepmc   +1 more source