Results 51 to 60 of about 233 (96)

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

[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

Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG). [PDF]

Cerebellum, 2021
Pettinato F, Mostile G, Battini R, Martinelli D, Madeo A, Biamino E, Frattini D, Garozzo D, Gasperini S, Parini R, Sirchia F, Sortino G, Sturiale L, Matthijs G, Morrone A, Di Rocco M, Rizzo R, Jaeken J, Fiumara A, Barone R.   +19 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

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

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

Sorbitol Is a Severity Biomarker for PMM2-CDG with Therapeutic Implications. [PDF]

Ann Neurol, 2021
Ligezka AN, Radenkovic S, Saraswat M, Garapati K, Ranatunga W, Krzysciak W, Yanaihara H, Preston G, Brucker W, McGovern RM, Reid JM, Cassiman D, Muthusamy K, Johnsen C, Mercimek-Andrews S, Larson A, Lam C, Edmondson AC, Ghesquière B, Witters P, Raymond K, Oglesbee D, Pandey A, Perlstein EO, Kozicz T, Morava E.   +25 more
europepmc   +1 more source