Results 1 to 10 of about 209 (72)

PHOSPHOMANNOMUTASE 2-CONGENITAL DISORDER OF GLYCOSYLATION: A CASE REPORT AND LITERATURE REVIE [PDF]

精准医学杂志, 2023
Objective To investigate the clinical and genetic features of patients with phosphomannomutase 2 (PMM2)-congenital disorder of glycosylation (CDG), and to provide a basis for the early diagnosis of PMM2-CDG. Methods A retrospective analysis was performed
WMENG Qiutong, ZHANG Tian, RAN Ni, YANG Zhaochuan, FU Peng, SHAN Yanchun
doaj   +1 more source

Unveiling the Potential of Lentilactobacillus hilgardii in Malolactic Fermentation: Comparative Genomics and Fermentation Dynamics

Microbial Biotechnology, Volume 18, Issue 12, December 2025.
This study explores the metabolic potential of Lentilactobacillus hilgardii for malolactic fermentation in winemaking. Genomic and in silico analyses, combined with experimental validation, reveal its resilience at low temperatures and unique enzymatic traits. Comparative insights with Oenococcus oeni highlight L.
Giacomo Mantegazza, Nicola Mangieri, Elnaz Vojoudi Yazdi, Pasquale Russo, Diego Mora, Giorgio Gargari   +5 more
wiley   +1 more source

Combined PMM2-CDG and hereditary fructose intolerance in a patient with mild clinical presentation. [PDF]

Mol Genet Metab, 2023
Hong X, Edmondson AC, Strong A, Pomerantz D, Michl E, Berry G, He M.   +6 more
europepmc   +1 more source

A PMM2-CDG caused by an A108V mutation associated with a heterozygous 70 kilobases deletion case report. [PDF]

Ital J Pediatr, 2022
Lebredonchel E, Riquet A, Neut D, Broly F, Matthijs G, Klein A, Foulquier F.   +6 more
europepmc   +1 more source

Mannose supplementation in PMM2-CDG. [PDF]

Orphanet J Rare Dis, 2021
Taday R, Park JH, Grüneberg M, DuChesne I, Reunert J, Marquardt T.   +5 more
europepmc   +1 more source

Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder. [PDF]

Am J Hum Genet, 2021
Morava E, Schatz UA, Torring PM, Abbott MA, Baumann M, Brasch-Andersen C, Chevalier N, Dunkhase-Heinl U, Fleger M, Haack TB, Nelson S, Potelle S, Radenkovic S, Bommer GT, Van Schaftingen E, Veiga-da-Cunha M.   +15 more
europepmc   +1 more source

Phosphomannomutase 2 hyperinsulinemia: Recent advances of genetic pathogenesis, diagnosis, and management. [PDF]

Front Endocrinol (Lausanne), 2022
Chen C, Sang Y.
europepmc   +1 more source

A Participatory Framework for Plain Language Clinical Management Guideline Development. [PDF]

Int J Environ Res Public Health, 2022
Francisco R, Alves S, Gomes C, Granjo P, Pascoal C, Brasil S, Neves A, Santos I, Miller A, Krasnewich D, Morava E, Lam C, Jaeken J, Videira PA, Dos Reis Ferreira V.   +14 more
europepmc   +1 more source

Phosphomannomutase 2 (PMM2) variants leading to hyperinsulinism-polycystic kidney disease are associated with early-onset inflammatory bowel disease and gastric antral foveolar hyperplasia. [PDF]

Hum Genet, 2023
Kiparissi F, Dastamani A, Palm L, Azabdaftari A, Campos L, Gaynor E, Grünewald S, Uhlig HH, Kleta R, Böckenhauer D, Jones KDJ.   +10 more
europepmc   +1 more source

Liver transplantation recovers hepatic N-glycosylation with persistent IgG glycosylation abnormalities: Three-year follow-up in a patient with phosphomannomutase-2-congenital disorder of glycosylation. [PDF]

Mol Genet Metab, 2023
Tahata S, Weckwerth J, Ligezka A, He M, Lee HE, Heimbach J, Ibrahim SH, Kozicz T, Furuya K, Morava E.   +9 more
europepmc   +1 more source