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What is new in CDG?

Journal of inherited metabolic disease, 2017-07, Vol.40 (4), p.569-586

2017

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Congenital disorders of glycosylation (CDG): Quo vadis?

European journal of medical genetics, 2018-11, Vol.61 (11), p.643-663

2018

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Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects

The Journal of experimental medicine, 2017-12, Vol.214 (12), p.3707-3729

2017

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Mutations in MAGT1 lead to a glycosylation disorder with a variable phenotype

Proceedings of the National Academy of Sciences - PNAS, 2019-05, Vol.116 (20), p.9865-9870

2019

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Erratum to: What is new in CDG?

Journal of inherited metabolic disease, 2017-07, Vol.40 (4), p.621-625

2017

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Use of Endoglycosidase H as a diagnostic tool for MAN1B1‐CDG patients

Electrophoresis, 2018-12, Vol.39 (24), p.3133-3141

2018

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Glycosylation disorders of membrane trafficking

Glycoconjugate journal, 2013, Vol.30 (1), p.23-31

2013

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MAN1B1 deficiency: an unexpected CDG-II

PLoS genetics, 2013, Vol.9 (12), p.e1003989-e1003989

2013

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Assessing ER and Golgi N-Glycosylation Process Using Metabolic Labeling in Mammalian Cultured Cells

Methods in Cell Biology, 2013, Vol.118, p.157-176

2013

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Manganese-induced turnover of TMEM165

Biochemical journal, 2017-05, Vol.474 (9), p.1481-1493

2017

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Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency

Brain (London, England : 1878), 2014-04, Vol.137 (Pt 4), p.1030-1038

2014

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Differential effects of lobe A and lobe B of the Conserved Oligomeric Golgi complex on the stability of β1,4-galactosyltransferase 1 and α2,6-sialyltransferase 1

Glycobiology (Oxford), 2011-07, Vol.21 (7), p.864-876

2011

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Identification of phosphorylated oligosaccharides in cells of patients with a congenital disorders of glycosylation (CDG-I)

Biochimie, 2011-05, Vol.93 (5), p.823-833

2011

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International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: Diagnosis, treatment and follow up

Journal of inherited metabolic disease, 2019-05, Vol.42 (3), p.577-577

2019

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MAN1B1 deficiency: an unexpected CDG-II

PLoS genetics, 2013-12, Vol.9 (12)

2013

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Assessing ER and GOLGI N-Glycosylation Process Using Metabolic Labeling in Mammalian Cultured Cells

Methods in Cell Biology, 2013, Vol.118, p.157-176

2013

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MAN1B1 Deficiency: An Unexpected CDG-II: e1003989

PLoS genetics, 2013-12, Vol.9 (12)

2013

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Chapter 10 - Assessing ER and Golgi N-Glycosylation Process Using Metabolic Labeling in Mammalian Cultured Cells

Methods in cell biology, 2013-01, Vol.118, p.157-176

2013

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Differential effects of lobe A and lobe B of the Conserved Oligomeric Golgi complex on the stability of {beta}1,4-galactosyltransferase 1 and {alpha}2,6-sialyltransferase 1

Glycobiology (Oxford), 2011-07, Vol.21 (7), p.864-876

2011

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What is new in CDG?

Congenital disorders of glycosylation (CDG): Quo vadis?

Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects

Mutations in MAGT1 lead to a glycosylation disorder with a variable phenotype

Erratum to: What is new in CDG?

Use of Endoglycosidase H as a diagnostic tool for MAN1B1‐CDG patients

Glycosylation disorders of membrane trafficking

MAN1B1 deficiency: an unexpected CDG-II

Assessing ER and Golgi N-Glycosylation Process Using Metabolic Labeling in Mammalian Cultured Cells

Manganese-induced turnover of TMEM165

Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency

Differential effects of lobe A and lobe B of the Conserved Oligomeric Golgi complex on the stability of β1,4-galactosyltransferase 1 and α2,6-sialyltransferase 1

Identification of phosphorylated oligosaccharides in cells of patients with a congenital disorders of glycosylation (CDG-I)

International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: Diagnosis, treatment and follow up

MAN1B1 deficiency: an unexpected CDG-II

Assessing ER and GOLGI N-Glycosylation Process Using Metabolic Labeling in Mammalian Cultured Cells

MAN1B1 Deficiency: An Unexpected CDG-II: e1003989

Chapter 10 - Assessing ER and Golgi N-Glycosylation Process Using Metabolic Labeling in Mammalian Cultured Cells

Differential effects of lobe A and lobe B of the Conserved Oligomeric Golgi complex on the stability of {beta}1,4-galactosyltransferase 1 and {alpha}2,6-sialyltransferase 1

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