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
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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
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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
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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
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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
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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
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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
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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
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In Silico Analysis of Phosphomannomutase-2 Dimer Interface Stability and Heterodimerization with Phosphomannomutase-1 [PDF]
MoleculesPhosphomannomutase 2 (PMM2) catalyzes the interconversion of mannose-6-phosphate and mannose-1-phosphate, a key step in the biosynthesis of GDP-mannose for N-glycosylation. Its deficiency is the most common cause of congenital disorders of glycosylation (
Bruno Hay Mele +4 more
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Targeted metabolomic evaluation of peripheral blood mononucleated cells from patients with PMM2-CDG [PDF]
Scientific ReportsPhosphomannomutase-2 (PMM2) deficiency represents the most common congenital disorder of glycosylation (CDG). Currently, little is known about cell metabolic alterations occurring in these patients.
Renata Mangione +20 more
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