Combined PMM2-CDG and hereditary fructose intolerance in a patient with mild clinical presentation. [PDF]
Mol Genet Metab, 2023 Hong X +6 more
europepmc +1 more source
Discovery of organellar calcium signaling components in Arabidopsis thaliana [PDF]
, 2011 In dieser Dissertation wird die Rolle von Organellen in der Kalzium-abhängigen Signaltransduktion in Pflanzen untersucht. Pflanzen und andere eukaryotische Organismen nutzen Kalzium als sekundären Botenstoff („secondary messenger“), um sich schnell an ...
Stael, Simon
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A PMM2-CDG caused by an A108V mutation associated with a heterozygous 70 kilobases deletion case report. [PDF]
Ital J Pediatr, 2022 Lebredonchel E +6 more
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NtdB: A kanosamine-6-phosphate phosphatase [PDF]
NtdB is an enzyme encoded within the ntd operon in Bacillus subtilis. This operon is reported to contain a complete set of genes necessary for the biosynthesis of 3,3'-neotrehalosadiamine (NTD), a compound composed of two kanosamine subunits linked ...
Boisvert-Martel, Julie
core
Mannose supplementation in PMM2-CDG. [PDF]
Orphanet J Rare Dis, 2021 Taday R +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 +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 +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 +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 +9 more
europepmc +1 more source