PGM1-CDG Latest Advances

Phosphoglucomutase 1 deficiency misdiagnosed as Laron syndrome.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: August 09, 2025

Complex Metabolomic Changes in a Combined Defect of Glycosylation and Oxidative Phosphorylation in a Patient with Pathogenic Variants in PGM1 and NDUFA13.

Journal: Cells

Published: March 20, 2025

Outcome of creatine supplementation therapy in phosphoglucomutase-1 deficiency associated congenital disorders of glycosylation: Novel insights.

Journal: Molecular genetics and metabolism reports

Published: February 10, 2025

Coagulation abnormalities and vascular complications are common in PGM1-CDG.

Journal: Molecular genetics and metabolism

Published: June 04, 2024

AAV-based gene therapy prevents and halts the progression of dilated cardiomyopathy in a mouse model of phosphoglucomutase 1 deficiency (PGM1-CDG).

Journal: Translational research : the journal of laboratory and clinical medicine

Published: December 12, 2022

Evolutionary rescue of phosphomannomutase deficiency in yeast models of human disease.

Journal: eLife

Published: April 07, 2022

Electrospray Ionization Mass Spectrometry of Transferrin: Use of Quadrupole Mass Analyzers for Congenital Disorders of Glycosylation.

Journal: Mass spectrometry (Tokyo, Japan)

Published: February 22, 2022

Whole exome sequencing reveals several novel variants in congenital disorders of glycosylation and glycogen storage diseases in seven patients from Iran.

Journal: Molecular genetics & genomic medicine

Published: November 15, 2021

A new D-galactose treatment monitoring index for PGM1-CDG.

Journal: Journal of inherited metabolic disease

Published: February 12, 2021

Congenital Disorders of Glycosylation in Portugal-Two Decades of Experience.

Journal: The Journal of pediatrics

Published: August 04, 2020

Apolipoprotein C-III O-glycoform profiling of 500 serum samples by matrix-assisted laser desorption/ionization mass spectrometry for diagnosis of congenital disorders of glycosylation.

Journal: Journal of mass spectrometry : JMS

Published: May 08, 2020

Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots.

Journal: Molecular genetics and metabolism

Published: April 21, 2020

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Phosphoglucomutase 1 deficiency misdiagnosed as Laron syndrome.

Phosphoglucomutase 1 deficiency misdiagnosed as Laron syndrome.

Complex Metabolomic Changes in a Combined Defect of Glycosylation and Oxidative Phosphorylation in a Patient with Pathogenic Variants in PGM1 and NDUFA13.

Complex Metabolomic Changes in a Combined Defect of Glycosylation and Oxidative Phosphorylation in a Patient with Pathogenic Variants in PGM1 and NDUFA13.

Outcome of creatine supplementation therapy in phosphoglucomutase-1 deficiency associated congenital disorders of glycosylation: Novel insights.

Outcome of creatine supplementation therapy in phosphoglucomutase-1 deficiency associated congenital disorders of glycosylation: Novel insights.

Coagulation abnormalities and vascular complications are common in PGM1-CDG.

Coagulation abnormalities and vascular complications are common in PGM1-CDG.

AAV-based gene therapy prevents and halts the progression of dilated cardiomyopathy in a mouse model of phosphoglucomutase 1 deficiency (PGM1-CDG).

AAV-based gene therapy prevents and halts the progression of dilated cardiomyopathy in a mouse model of phosphoglucomutase 1 deficiency (PGM1-CDG).

Evolutionary rescue of phosphomannomutase deficiency in yeast models of human disease.

Evolutionary rescue of phosphomannomutase deficiency in yeast models of human disease.

Electrospray Ionization Mass Spectrometry of Transferrin: Use of Quadrupole Mass Analyzers for Congenital Disorders of Glycosylation.

Electrospray Ionization Mass Spectrometry of Transferrin: Use of Quadrupole Mass Analyzers for Congenital Disorders of Glycosylation.

Whole exome sequencing reveals several novel variants in congenital disorders of glycosylation and glycogen storage diseases in seven patients from Iran.

Whole exome sequencing reveals several novel variants in congenital disorders of glycosylation and glycogen storage diseases in seven patients from Iran.

A new D-galactose treatment monitoring index for PGM1-CDG.

A new D-galactose treatment monitoring index for PGM1-CDG.

Congenital Disorders of Glycosylation in Portugal-Two Decades of Experience.

Congenital Disorders of Glycosylation in Portugal-Two Decades of Experience.

Apolipoprotein C-III O-glycoform profiling of 500 serum samples by matrix-assisted laser desorption/ionization mass spectrometry for diagnosis of congenital disorders of glycosylation.

Apolipoprotein C-III O-glycoform profiling of 500 serum samples by matrix-assisted laser desorption/ionization mass spectrometry for diagnosis of congenital disorders of glycosylation.

Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots.

Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots.