Results 141 to 150 of about 1,300 (164)

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

JCEM Case Rep
Ødum SF, Grønborg SW, Main KM, Klose M.   +3 more
europepmc   +1 more source

Unilateral Multicystic Dysplastic Kidney in a Fetus Associated With Parental Genetic and Environmental Risk Factors: A Case Report. [PDF]

Cureus
Khan Z, Jafri M, Lambroussis CG.
europepmc   +1 more source

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Abnormal fat distribution in PMM2-CDG

Molecular Genetics and Metabolism, 2013
We hypothesize that abnormal fat distribution, a common feature of PMM2-CDG, is associated with abnormal perinatal hormone regulation. We assessed 32 cases with PMM2-CDG, for the comorbidity of hypoglycemia/hyperinsulinism and fat pads. Ninety percent of patients with hypoketotic hypoglycemia and/or hyperinsulinism had abnormal fat distribution, while ...
Wolthuis, D.F., Asbeck, E.V. van, Kozicz, L.T., Morava, E.   +3 more
openaire   +3 more sources

Thrombotic complications in patients with PMM2-CDG

Molecular Genetics and Metabolism, 2013
Many proteins regulating coagulation, including factor IX, factor XI, Antithrombin-III, Protein C and Protein S are deficient or decreased in activity in congenital disorders of glycosylation (CDG). Because of the imbalance of coagulation and anticoagulation factors, some patients develop acute vascular events, such as thrombosis.
Linssen, M., Mohamed, M., Wevers, R.A., Wevers, R.A., Wevers, R.A., Lefeber, D.J., Lefeber, D.J., Morava, E., Morava, E.   +8 more
openaire   +3 more sources

Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2‐CDG)

Journal of Inherited Metabolic Disease, 2011
AbstractDeficiency of phosphomannomutase (PMM2, MIM#601785) is the most common congenital disorder of glycosylation. Herein we report the genetic analysis of 22 Spanish PMM2 deficient patients and the functional analysis of 14 nucleotide changes in a prokaryotic expression system in order to elucidate their molecular pathogenesis.
Ana Isabel, Vega, Celia, Pérez-Cerdá, David, Abia, Alejandra, Gámez, Paz, Briones, Rafael, Artuch, Lourdes R, Desviat, Magdalena, Ugarte, Belén, Pérez   +8 more
openaire   +2 more sources

PMM2-CDG: Phenotype and genotype in four affected family members

Gene, 2013
Congenital disorders of glycosylation (CDG) are genetic defects in protein and lipid glycosylation. PMM2-CDG is the most prevalent protein N-glycosylation disorder with more than 700 reported patients. Here we report on a large Italian family with four affected members and three mutations.
Bortot, Barbara, Cosentini, Dora, Faletra, Flavio, Biffi, Stefania, DE MARTINO, ELEONORA, Carrozzi, Marco, Severini, Giovanni Maria   +6 more
openaire   +3 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, Bruneel, Arnaud, Vermeersch, Pieter, Cholet, Sophie, Friedrich, Sebastian, Eckenweiler, Matthias, Schumann, Anke, Hengst, Simone, Tuncel, Ali Tunç, Fenaille, François, Thiel, Christian, Rymen, Daisy   +11 more
openaire   +4 more sources