Results 11 to 20 of about 25,010,716 (171)

Natural Killer Cell Receptors and Cytotoxic Activity in Phosphomannomutase 2 Deficiency (PMM2-CDG). [PDF]

PLoS ONE, 2016
PMM2-CDG is the most common N-glycosylation defect and shows an increased risk of recurrent and/or severe, sometimes fatal, infections in early life. We hypothesized that natural killer (NK) cells, as important mediators of the immune response against ...
Roberto García-López, María Eugenia de la Morena-Barrio, Laia Alsina, Belén Pérez-Dueñas, Jaak Jaeken, Mercedes Serrano, Mercedes Casado, Trinidad Hernández-Caselles   +7 more
doaj   +8 more sources

Anesthetic management of a child with phosphomannomutase-2 congenital disorder of glycosylation (PMM2-CDG) [PDF]

JA Clinical Reports, 2017
Background Glycosylation is one of the major posttranslational modifications of proteins and it is essential for proteins to obtain normal biological functions.
Wataru Sakai, Yusuke Yoshikawa, Yasuyuki Tokinaga, Michiaki Yamakage   +3 more
doaj   +5 more sources

Correction: Natural Killer Cell Receptors and Cytotoxic Activity in Phosphomannomutase 2 Deficiency (PMM2-CDG). [PDF]

PLoS ONE, 2016
[This corrects the article DOI: 10.1371/journal.pone.0158863.].
Roberto García-López, María Eugenia de la Morena-Barrio, Laia Alsina, Belén Pérez-Dueñas, Jaak Jaeken, Mercedes Serrano, Mercedes Casado, Trinidad Hernández-Caselles   +7 more
doaj   +5 more sources

Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency? [PDF]

Mol Genet Metab, 2021
PMM2-CDG is the most common congenital disorder of glycosylation (CDG) accounting for almost 65% of known CDG cases affecting N-glycosylation. Abnormalities in N-glycosylation could have a negative impact on many endocrine axes.
Čechová A, Honzík T, Edmondson AC, Ficicioglu C, Serrano M, Barone R, De Lonlay P, Schiff M, Witters P, Lam C, Patterson M, Janssen MCH, Correia J, Quelhas D, Sykut-Cegielska J, Plotkin H, Morava E, Sarafoglou K.   +17 more
europepmc   +8 more sources

Suspected Central Adrenal Insufficiency in a Patient with Phosphomannomutase 2-Congenital Disorder of Glycosylation. [PDF]

JCEM Case Rep
Phosphomannomutase 2–congenital disorder of glycosylation (PMM2-CDG) is a hereditary defect causing hypoglycosylation of N-linked glycoproteins. It was recently suggested that patients with PMM2-CDG may have central adrenal insufficiency.
Ødum SF, Grønborg SW, Main KM, Klose M.   +3 more
europepmc   +5 more sources

Ophthalmological and electrophysiological findings in monozygotic twin sisters with phosphomannomutase 2 deficiency (PMM2-CDG) over a period of 37 years [PDF]

GMS Ophthalmology Cases, 2019
Aims: To describe the evolution of ophthalmological and electrophysiological findings in monozygotic twin sisters with phosphomannomutase 2 deficiency (PMM2-CDG).Methods: A clinical ophthalmological examination with visual acuity measurement, fundoscopy ...
Van Hees, Ines, Jaeken, Jaak, Meersseman, Wouter, Casteels, Ingele   +3 more
doaj   +3 more sources

[Advances in the diagnosis and treatment of phosphomannomutase 2 deficiency]. [PDF]

Zhongguo Dang Dai Er Ke Za Zhi, 2023
Phosphomannomutase 2 deficiency is the most common form of N-glycosylation disorders and is also known as phosphomannomutase 2-congenital disorder of glycosylation (PMM2-CDG). It is an autosomal recessive disease with multi-system involvements and is caused by mutations in the PMM2 gene (OMIM: 601785), with varying severities in individuals. At present,
Zhou SY.
europepmc   +4 more sources

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
Phosphomannomutase-2-congenital disorder of glycosylation (PMM2-CDG) is the most common CDG and presents with highly variable features ranging from isolated neurologic involvement to severe multi-organ dysfunction.
Tahata S, Weckwerth J, Ligezka A, He M, Lee HE, Heimbach J, Ibrahim SH, Kozicz T, Furuya K, Morava E.   +9 more
europepmc   +2 more sources

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
Phosphomannomutase 2 (PMM2) deficiency causes Congenital Disorder of Glycosylation (PMM2-CDG), but does not have a recognised association with Inflammatory Bowel Disease (IBD).
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   +2 more sources

Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2. [PDF]

J Am Soc Nephrol, 2017
Hyperinsulinemic hypoglycemia (HI) and congenital polycystic kidney disease (PKD) are rare, genetically heterogeneous disorders. The co-occurrence of these disorders (HIPKD) in 17 children from 11 unrelated families suggested an unrecognized genetic disorder.
Cabezas OR, Flanagan SE, Stanescu H, García-Martínez E, Caswell R, Lango-Allen H, Antón-Gamero M, Argente J, Bussell AM, Brandli A, Cheshire C, Crowne E, Dumitriu S, Drynda R, Hamilton-Shield JP, Hayes W, Hofherr A, Iancu D, Issler N, Jefferies C, Jones P, Johnson M, Kesselheim A, Klootwijk E, Koettgen M, Lewis W, Martos JM, Mozere M, Norman J, Patel V, Parrish A, Pérez-Cerdá C, Pozo J, Rahman SA, Sebire N, Tekman M, Turnpenny PD, Hoff WV, Viering DHHM, Weedon MN, Wilson P, Guay-Woodford L, Kleta R, Hussain K, Ellard S, Bockenhauer D.   +45 more
europepmc   +9 more sources