Immunological aspects of congenital disorders of glycosylation (CDG): a review

Classical galactosaemia: novel insights in IgG N-glycosylation and N-glycan biosynthesis

(2016) Ashwini Maratha et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Inflammatory markers in pediatric stroke: An attempt to better understanding the pathophysiology

(2016) Sarah E. Buerki et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Susceptibility to infections, without concomitant hyper-IgE, reported in 1976, is caused by hypomorphic mutation in the phosphoglucomutase 3 ( PGM3 ) gene

(2015) Karin E. Lundin et al.   CLINICAL IMMUNOLOGY

Glycoproteomic studies of IgE from a novel hyper IgE syndrome linked to PGM3 mutation

(2015) Gang Wu et al.   GLYCOCONJUGATE JOURNAL

Mutations inPIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies

(2015) Biljana Ilkovski et al.   HUMAN MOLECULAR GENETICS

N-Glycosylation of Serum IgG and Total Glycoproteins in MAN1B1 Deficiency

(2015) Radka Saldova et al.   JOURNAL OF PROTEOME RESEARCH

Key features and clinical variability of COG6-CDG

(2015) Daisy Rymen et al.   MOLECULAR GENETICS AND METABOLISM

Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment

(2015) Mercedes Serrano et al.   Orphanet Journal of Rare Diseases

Glycans Instructing Immunity: The Emerging Role of Altered Glycosylation in Clinical Immunology

(2015) Jonathan J. Lyons et al.   Frontiers in Pediatrics

PGM3 Mutations Cause a Congenital Disorder of Glycosylation with Severe Immunodeficiency and Skeletal Dysplasia

(2014) Asbjørg Stray-Pedersen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Viral resistance of MOGS-CDG patients implies a broad-spectrum strategy against acute virus infections

(2014) Jinhong Chang et al.   ANTIVIRAL THERAPY

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

(2014) Monique Van Scherpenzeel et al.   BRAIN

N-glycosylation deficiency reduces ICAM-1 induction and impairs inflammatory response

(2014) Ping He et al.   GLYCOBIOLOGY

Congenital disorder of fucosylation type 2c (LADII) presenting with short stature and developmental delay with minimal adhesion defect

(2014) Andrew Dauber et al.   HUMAN MOLECULAR GENETICS

Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment

(2014) Yu Zhang et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels

(2014) Atfa Sassi et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Identification of a Novel Mutation in MAGT1 and Progressive Multifocal Leucoencephalopathy in a 58-Year-Old Man with XMEN Disease

(2014) Fatima Dhalla et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Skin manifestations in CDG

(2014) D. Rymen et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Congenital disorders of glycosylation: new defects and still counting

(2014) Kyle Scott et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Glycosylation, Hypogammaglobulinemia, and Resistance to Viral Infections

(2014) Mohammed A. Sadat et al.   NEW ENGLAND JOURNAL OF MEDICINE

29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype

(2014) Marie-Lorraine Monin et al.   Orphanet Journal of Rare Diseases

GALNT3gene mutation-associated chronic recurrent multifocal osteomyelitis and familial hyperphosphatemic familial tumoral calcinosis

(2014) D El Demellawy et al.   SCANDINAVIAN JOURNAL OF RHEUMATOLOGY

XLID-Causing Mutations and Associated Genes Challenged in Light of Data From Large-Scale Human Exome Sequencing

(2013) Amélie Piton et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Impaired NADPH oxidase activity in peripheral blood lymphocytes of galactosemia patients

(2013) Mazen Al-Essa et al.   EXPERIMENTAL BIOLOGY AND MEDICINE

ALG1-CDG: A new case with early fatal outcome

(2013) A.-K. Rohlfing et al.   GENE

A novel syndrome of hypohidrosis and intellectual disability is linked to COG6 deficiency

(2013) Ranad Shaheen et al.   JOURNAL OF MEDICAL GENETICS

N-Glycan Abnormalities in Children with Galactosemia

(2013) Karen P. Coss et al.   JOURNAL OF PROTEOME RESEARCH

Severe, fatal multisystem manifestations in a patient with dolichol kinase-congenital disorder of glycosylation

(2013) Michelle T. Lieu et al.   MOLECULAR GENETICS AND METABOLISM

GPI-anchor and GPI-anchored protein expression in PMM2-CDG patients

(2013) Maria E de la Morena-Barrio et al.   Orphanet Journal of Rare Diseases

MAN1B1 Deficiency: An Unexpected CDG-II

(2013) Daisy Rymen et al.   PLoS Genetics

Dendritic Cells: A Spot on Sialic Acid

(2013) Hélio J. Crespo et al.   Frontiers in Immunology

MGAT2-CDG (CDG-IIa) and dysmorphism

(2012) Jaak Jaeken   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Multifarious roles of sialic acids in immunity

(2012) Ajit Varki et al.   Annals of the New York Academy of Sciences

From discrete dilated cardiomyopathy to successful cardiac transplantation in congenital disorders of glycosylation due to dolichol kinase deficiency (DK1-CDG)

(2012) Livia Kapusta et al.   HEART FAILURE REVIEWS

Defining the Phenotype in Congenital Disorder of Glycosylation Due to ALG1 Mutations

(2012) E. Morava et al.   PEDIATRICS

The Role of Sugars in Dendritic Cell Trafficking

(2011) Zélia Silva et al.   ANNALS OF BIOMEDICAL ENGINEERING

Conserved oligomeric Golgi complex specifically regulates the maintenance of Golgi glycosylation machinery

(2011) Irina D Pokrovskaya et al.   GLYCOBIOLOGY

Second messenger role for Mg2+ revealed by human T-cell immunodeficiency

(2011) Feng-Yen Li et al.   NATURE

Fatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylation

(2010) J. Lubbehusen et al.   HUMAN MOLECULAR GENETICS

Association of fungal sepsis and galactosemia

(2010) Sanjay Verma et al.   INDIAN JOURNAL OF PEDIATRICS

A Novel Role for the IgG Fc Glycan: The Anti-inflammatory Activity of Sialylated IgG Fcs

(2010) Robert M. Anthony et al.   JOURNAL OF CLINICAL IMMUNOLOGY

MGAT2 deficiency (CDG-IIa): The Life of J.

(2009) Paul de Cock et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

CDG nomenclature: Time for a change!

(2009) Jaak Jaeken et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

The clinical spectrum of phosphomannomutase 2 deficiency (CDG-Ia)

(2009) Stephanie Grünewald   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

The skeletal manifestations of the congenital disorders of glycosylation

(2009) D Coman et al.   CLINICAL GENETICS

Retinal hemorrhages associated with meningitis in a child with a congenital disorder of glycosylation

(2009) Beng Beng Ong et al.   Forensic Science Medicine and Pathology

Severe sepsis in cirrhosis

(2009) Thierry Gustot et al.   HEPATOLOGY

Regulation of Notch signaling during T- and B-cell development byO-fucose glycans

(2009) Pamela Stanley et al.   IMMUNOLOGICAL REVIEWS

PSGL-1 function in immunity and steady state homeostasis

(2009) Douglas A. Carlow et al.   IMMUNOLOGICAL REVIEWS

Glycoimmunology: ignore at your peril!

(2009) Linda G. Baum et al.   IMMUNOLOGICAL REVIEWS

Glycosylation in immune cell trafficking

(2009) Markus Sperandio et al.   IMMUNOLOGICAL REVIEWS

Oligosaccharyltransferase-Subunit Mutations in Nonsyndromic Mental Retardation

(2008) Florence Molinari et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Congenital disorder of glycosylation Ia: New differentially expressed proteins identified by 2-DE

(2008) Eva Richard et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Long-term evolution of eight Spanish patients with CDG type Ia: Typical and atypical manifestations

(2008) B. Pérez-Dueñas et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Pericardial and abdominal fluid accumulation in Congenital Disorder of Glycosylation type Ia

(2008) Gerben Truin et al.   MOLECULAR GENETICS AND METABOLISM

Risk assessment of acute vascular events in congenital disorder of glycosylation type Ia

(2008) J.B. Arnoux et al.   MOLECULAR GENETICS AND METABOLISM