PMM2-CDG and nephrotic syndrome: A case report. [PDF]
Clin Case Rep, 2022 CDG are a group of diseases altering the glycosylation process. Enzymes involved have ubiquitous distribution with systemic involvement and high phenotypic variability. We report the case of a girl with central hypotonia, epilepsy and severe psychomotor delay diagnosed with phosphomannomutase 2 deficiency (PMM2-CDG) after presenting with nephrotic ...
Banderali G +3 more
europepmc +7 more sources
GPI-anchor and GPI-anchored protein expression in PMM2-CDG patients [PDF]
Orphanet Journal of Rare Diseases, 2013 AbstractBackgroundMutations inPMM2impair phosphomannomutase-2 activity and cause the most frequent congenital disorder of glycosylation, PMM2-CDG. Mannose-1-phosphate, that is deficient in this disorder, is also implicated in the biosynthesis of glycosylphosphatidyl inositol (GPI) anchors.ObjectiveTo evaluate whether GPI-anchor and GPI-anchored ...
de la Morena-Barrio, Maria E +13 more
openaire +7 more sources
Combined PMM2-CDG and hereditary fructose intolerance in a patient with mild clinical presentation [PDF]
Molecular Genetics and Metabolism, 2023 Gerard Berry +2 more
exaly +2 more sources
Thyroid function in PMM2-CDG: Diagnostic approach and proposed management
Molecular Genetics and Metabolism, 2012 Glycoproteins are essential in the production, transport, storage and regulation of thyroid hormones. Altered glycosylation has a potential impact on thyroid function. Abnormal thyroid function tests have been described in patients with congenital disorders of glycosylation.
Mohamed, M. +14 more
openaire +4 more sources
“Hide and seek”: Misleading transferrin variants in PMM2‐CDG complicate diagnostics
PROTEOMICS – Clinical Applications, 2023 AbstractPurposeCongenital disorders of glycosylation (CDG) are one of the fastest growing groups of inborn errors of metabolism. Despite the availability of next‐generation sequencing techniques and advanced methods for evaluation of glycosylation, CDG screening mainly relies on the analysis of serum transferrin (Tf) by isoelectric focusing, HPLC or ...
Raynor, Alexandre +11 more
openaire +5 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 +3 more
doaj +3 more sources
A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG) [PDF]
Orphanet Journal of Rare Diseases, 2017 Background We aim to delineate the progression of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG) using the International Cooperative Ataxia Rating Scale (ICARS).
Natalia Lourdes Serrano +11 more
doaj +2 more sources
Tissue-specific expression and regulation of congenital disorders of glycosylation genes: A GTEx-based in silico study [PDF]
Molecular Genetics and Metabolism ReportsCongenital disorders of glycosylation (CDGs) are rare metabolic diseases characterized by clinical heterogeneity, yet the molecular basis for their tissue-specific manifestations remains poorly understood.
Cátia J. Neves +5 more
doaj +2 more sources
PHOSPHOMANNOMUTASE 2-CONGENITAL DISORDER OF GLYCOSYLATION: A CASE REPORT AND LITERATURE REVIE [PDF]
精准医学杂志, 2023 Objective To investigate the clinical and genetic features of patients with phosphomannomutase 2 (PMM2)-congenital disorder of glycosylation (CDG), and to provide a basis for the early diagnosis of PMM2-CDG. Methods A retrospective analysis was performed
WMENG Qiutong, ZHANG Tian, RAN Ni, YANG Zhaochuan, FU Peng, SHAN Yanchun
doaj +1 more source
Recurrent fetal truncus arteriosus associated with PMM2-CDG. [PDF]
JIMD Rep, 2021 Malheiro F +3 more
europepmc +4 more sources