Results 41 to 50 of about 2,264 (140)
Anterior Ischemic Optic Neuropathy in a Child Receiving Chronic Hemodialysis
Case Reports in Nephrology, 2020 Anterior ischemic optic neuropathy (AION) occurs due to hypoperfusion of the optic nerve and is a rare complication in patients receiving maintenance dialysis.
Joyce Moore +6 more
doaj +1 more source
An AciI polymorphism in the 3′ untranslated region of the human phosphomannomutase 2 (PMM2) gene [PDF]
Journal of Human Genetics, 1999 We found an AciI polymorphism in the 3' untranslated region of the phosphomannomutase 2 (PMM2) gene located at 16p13. A G-to-C transition at nucleotide position 96 bp downstream from the PMM2 stop codon was detected in polymerase chain reaction (PCR) products after AciI digestion.
K, Mizugishi +3 more
openaire +2 more sources
Orphanet Journal of Rare Diseases, 2021 A recent report on long-term dietary mannose supplementation in phosphomannomutase 2 deficiency (PMM2-CDG) claimed improved glycosylation and called for double-blind randomized study of the dietary supplement in PMM2-CDG patients.
Peter Witters +8 more
doaj +1 more source
Molecular Genetics & Genomic Medicine, 2021 Background Polycystic kidney disease with hyperinsulinaemic hypoglycaemia (HIPKD) is a recently described disease caused by a single nucleotide variant, c.‐167G>T, in the promoter region of PMM2 (encoding phosphomannomutase 2), either in homozygosity or ...
Sumaya Islam +9 more
doaj +1 more source
Platelet Membrane Glycoprofiling in a PMM2-CDG Patient
Journal of Inborn Errors of Metabolism and Screening, 2021 Congenital disorders of glycosylation (CDG) are metabolic hereditary diseases caused by defects in the synthesis of glycoconjugates. CDG have been described in sugar-nucleotide biosynthesis and transporter, glycosyltransferases, vesicular transport, as ...
G.M. Papazoglu +9 more
doaj +1 more source
Pediatric Reports, 2022 Background: Hyperinsulinemic hypoglycemia (HH) is an important cause of persistent hypoglycemia in newborns and infants. Recently, PMM2 (phosphomannomutase 2) mutation has been associated with HH, especially in conjunction with polycystic kidney disease (
Ratna Acharya, Kiran Upadhyay
doaj +1 more source
Anthropometric Phenotype of Patients with PMM2-CDG
Children, 2021 Background: Growth failure is commonly reported in children with PMM2-CDG. The aim of the study was to delineate the longitudinal anthropometric phenotype of patients with PMM2-CDG and attempt to find some correlations between the genotype and ...
Patryk Lipiński +3 more
doaj +1 more source
Caenorhabditis elegans as an in vivo model system for human inherited primary arrhythmia syndromes
The Journal of Physiology, EarlyView.Abstract figure legend Most genes involved in inherited primary arrhythmia syndromes (IPAS) are conserved in Caenorhabditis elegans, where genetic manipulation enables functional characterization of variants, identification of regulatory proteins, and in vivo drug testing.
Antoine Delinière +6 more
wiley +1 more source
Clinical and molecular diagnosis of non‐phosphomannomutase 2 N‐linked congenital disorders of glycosylation in Spain [PDF]
Clinical Genetics, 2019 The congenital disorders of glycosylation (CDG) are defects in glycoprotein and glycolipid glycan synthesis and attachment. They affect multiple organ/systems, but non‐specific symptoms render the diagnosis of the different CDG very challenging.
Celia Medrano +29 more
openaire +4 more sources
Molecular Genetics and Metabolism Reports, 2020 Variants in Phosphomannomutase 2 (PMM2) lead to PMM2-CDG, the most frequent congenital disorder of glycosylation (CDG). We here describe the disease course of a ten-month old patient who presented with the classical PMM2-CDG symptoms as cerebellar ...
Marlen Görlacher +12 more
doaj +1 more source