Yeast Models of Phosphomannomutase 2 Deficiency, a Congenital Disorder of Glycosylation [PDF]
G3: Genes, Genomes, Genetics, 2019 Phosphomannomutase 2 Deficiency (PMM2-CDG) is the most common monogenic congenital disorder of glycosylation (CDG) affecting at least 800 patients globally.
Jessica P. Lao +5 more
doaj +7 more sources
Vascular ring anomaly in a patient with phosphomannomutase 2 deficiency: A case report and review of the literature [PDF]
JIMD Reports, 2020 Background Congenital disorders of glycosylation (CDG) are a group of metabolic disorders well known to be associated with developmental delay and central nervous system anomalies.
Zhen Qian +4 more
doaj +7 more sources
AAV9-based PMM2 gene replacement augments PMM2 expression and improves glycosylation in primary fibroblasts of patients with phosphomannomutase 2 deficiency (PMM2-CDG) [PDF]
Molecular Genetics and Metabolism ReportsInherited deficiency of phosphomannomutase 2 (PMM2) (aka PMM2-CDG) is the most common congenital disorders of glycosylation (CDG) and has no cure.
M. Zhong +3 more
doaj +6 more sources
Hyperinsulinism May Be Underreported in Hypoglycemic Patients with Phosphomannomutase 2 Deficiency [PDF]
JCRPE, 2022 INTRODUCTION: Phosphomannomutase 2 deficiency (PMM2-CDG) is a disorder of protein N-glycosylation with a wide clinical spectrum. Hypoglycemia is rarely reported in PMM2-CDG.
Doğuş Vurallı +7 more
doaj +4 more sources
Dietary mannose supplementation in phosphomannomutase 2 deficiency (PMM2-CDG) [PDF]
Orphanet Journal of Rare Diseases, 2020 Background PMM2-CDG (CDG-Ia) is the most frequent N-glycosylation disorder. While supplying mannose to PMM2-deficient fibroblasts corrects the altered N-glycosylation in vitro, short term therapeutic approaches with mannose supplementation in PMM2-CDG ...
Roman Taday +4 more
doaj +5 more sources
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 +7 more
doaj +6 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 +7 more
doaj +4 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 +3 more
doaj +4 more sources
Towards a therapy for phosphomannomutase 2 deficiency, the defect in CDG-Ia patients [PDF]
Biochimica Et Biophysica Acta - Molecular Basis of Disease, 2009 Phosphomannomutase (PMM2, Mannose-6-P--> Mannose-1-P) deficiency is the most frequent glycosylation disorder affecting the N-glycosylation pathway. There is no therapy for the hundreds of patients who suffer from this disorder. This review describes previous attempts at therapeutic interventions and introduces perspectives emerging from the drawing ...
Hudson Freeze
exaly +5 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 +3 more sources