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Congenital disorders of glycosylation

Handbook of Clinical Neurology, 2013, Vol.113, p.1737-1743

Jaeken, J.

2013

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The challenge of CDG diagnosis

Molecular genetics and metabolism, 2019-01, Vol.126 (1), p.1-5

2019

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Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature

Journal of Inherited Metabolic Disease, 2017-03, Vol.40 (2), p.195-207

2017

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Skin manifestations in CDG

Journal of inherited metabolic disease, 2014-09, Vol.37 (5), p.699-708

2014

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Cardiac complications of congenital disorders of glycosylation (CDG): a systematic review of the literature

Journal of inherited metabolic disease, 2017-09, Vol.40 (5), p.657-672

2017

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Patient reported outcomes for phosphomannomutase 2 congenital disorder of glycosylation (PMM2-CDG): listening to what matters for the patients and health professionals

Orphanet journal of rare diseases, 2022-10, Vol.17 (1), p.1-398, Article 398

2022

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Congenital disorders of glycosylation (CDG): It's all in it

Journal of inherited metabolic disease, 2003-03, Vol.26 (2-3), p.99-118

Jaeken, J.

2003

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Childhood Pompe disease: clinical spectrum and genotype in 31 patients

Orphanet journal of rare diseases, 2016-05, Vol.11 (1), p.65-65, Article 65

2016

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MALDI‐MS profiling of serum O‐glycosylation and N‐glycosylation in COG5‐CDG

Journal of mass spectrometry., 2017-06, Vol.52 (6), p.372-377

2017

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Assessing the effects of PMM2 variants on protein stability

Molecular genetics and metabolism, 2021-12, Vol.134 (4), p.344-352

2021

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Hypoglycosylation is a common finding in antithrombin deficiency in the absence of a SERPINC1 gene defect

Journal of thrombosis and haemostasis, 2016-08, Vol.14 (8), p.1549-1560

2016

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On the nomenclature of congenital disorders of glycosylation (CDG)

Journal of inherited metabolic disease, 2008-12, Vol.31 (6), p.669-672

2008

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Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data

Clinical genetics, 2017-08, Vol.92 (2), p.188-198

2017

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A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation

Journal of neurology, 2015-01, Vol.262 (1), p.154-164

2015

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Troubles de la synthèse des aminoglycanes

Archives de pédiatrie (Paris), 1999, Vol.6, p.S203-S205

Jaeken, J.

1999

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Congenital disorders of glycosylation (CDG): Update and new developments

Journal of inherited metabolic disease, 2004-05, Vol.27 (3), p.423-426

Jaeken, J.

2004

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Cognitive outcome of patients with classic infantile Pompe disease receiving enzyme therapy

Neurology, 2012-05, Vol.78 (19), p.1512-1518

2012

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Keeping an eye on congenital disorders of O-glycosylation: a systematic literature review

Journal of inherited metabolic disease, 2018-02, p.1-16

2018

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The skeletal manifestations of the congenital disorders of glycosylation

Clinical genetics, 2008-06, Vol.73 (6), p.507-515

2008

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Cerebrocostomandibular-like syndrome and a mutation in the conserved oligomeric Golgi complex, subunit 1

Human molecular genetics, 2009-02, Vol.18 (3), p.517-524

2009

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Platelet Gs hypofunction and abnormal morphology resulting from a heterozygous RGS2 mutation

Journal of thrombosis and haemostasis, 2010-07, Vol.8 (7), p.1594-1603

2010

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ALG11-CDG: Three novel mutations and further characterization of the phenotype

Molecular genetics and metabolism reports, 2015-03, Vol.2 (C), p.16-19

2015

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RFT1-CDG: Absence of Epilepsy and Deafness in Two Patients with Novel Pathogenic Variants

JIMD Reports, Volume 43, 2019, Vol.43, p.111-116

2019

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Proteomic analysis of platelet N -glycoproteins in PMM2-CDG patients

Thrombosis research, 2014-03, Vol.133 (3), p.412-417

2014

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Congenital disorder of glycosylation (PMM2‐CDG) in a patient with antithrombin deficiency and severe thrombophilia

Journal of thrombosis and haemostasis, 2012-12, Vol.10 (12), p.2625-2627

2012

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Congenital disorders of glycosylation

The challenge of CDG diagnosis

Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature

Skin manifestations in CDG

Cardiac complications of congenital disorders of glycosylation (CDG): a systematic review of the literature

Patient reported outcomes for phosphomannomutase 2 congenital disorder of glycosylation (PMM2-CDG): listening to what matters for the patients and health professionals

Congenital disorders of glycosylation (CDG): It's all in it

Childhood Pompe disease: clinical spectrum and genotype in 31 patients

MALDI‐MS profiling of serum O‐glycosylation and N‐glycosylation in COG5‐CDG

Assessing the effects of PMM2 variants on protein stability

Hypoglycosylation is a common finding in antithrombin deficiency in the absence of a SERPINC1 gene defect

On the nomenclature of congenital disorders of glycosylation (CDG)

Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data

A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation

Troubles de la synthèse des aminoglycanes

Congenital disorders of glycosylation (CDG): Update and new developments

Cognitive outcome of patients with classic infantile Pompe disease receiving enzyme therapy

Keeping an eye on congenital disorders of O-glycosylation: a systematic literature review

The skeletal manifestations of the congenital disorders of glycosylation

Cerebrocostomandibular-like syndrome and a mutation in the conserved oligomeric Golgi complex, subunit 1

Platelet Gs hypofunction and abnormal morphology resulting from a heterozygous RGS2 mutation

ALG11-CDG: Three novel mutations and further characterization of the phenotype

RFT1-CDG: Absence of Epilepsy and Deafness in Two Patients with Novel Pathogenic Variants

Proteomic analysis of platelet N -glycoproteins in PMM2-CDG patients

Congenital disorder of glycosylation (PMM2‐CDG) in a patient with antithrombin deficiency and severe thrombophilia

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