Related references
Note: Only part of the references are listed.Glycoproteomic studies of IgE from a novel hyper IgE syndrome linked to PGM3 mutation
Gang Wu et al.
GLYCOCONJUGATE JOURNAL (2016)
Classical galactosaemia: novel insights in IgG N-glycosylation and N-glycan biosynthesis
Ashwini Maratha et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2016)
Inflammatory markers in pediatric stroke: An attempt to better understanding the pathophysiology
Sarah E. Buerki et al.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2016)
Susceptibility to infections, without concomitant hyper-IgE, reported in 1976, is caused by hypomorphic mutation in the phosphoglucomutase 3 (PGM3) gene
Karin E. Lundin et al.
CLINICAL IMMUNOLOGY (2015)
Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies
Biljana Ilkovski et al.
HUMAN MOLECULAR GENETICS (2015)
N-Glycosylation of Serum IgG and Total Glycoproteins in MAN1B1 Deficiency
Radka Saldova et al.
JOURNAL OF PROTEOME RESEARCH (2015)
Key features and clinical variability of COG6-CDG
Daisy Rymen et al.
MOLECULAR GENETICS AND METABOLISM (2015)
Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment
Mercedes Serrano et al.
ORPHANET JOURNAL OF RARE DISEASES (2015)
Glycans instructing immunity: the emerging role of altered glycosylation in clinical immunology
Jonathan J. Lyons et al.
FRONTIERS IN PEDIATRICS (2015)
Viral resistance of MOGS-CDG patients implies a broad-spectrum strategy against acute virus infections
Jinhong Chang et al.
ANTIVIRAL THERAPY (2015)
Identification of a Novel Mutation in MAGT1 and Progressive Multifocal Leucoencephalopathy in a 58-Year-Old Man with XMEN Disease
Fatima Dhalla et al.
JOURNAL OF CLINICAL IMMUNOLOGY (2015)
GALNT3 gene mutation-associated chronic recurrent multifocal osteomyelitis and familial hyperphosphatemic familial tumoral calcinosis
D. El Demellawy et al.
SCANDINAVIAN JOURNAL OF RHEUMATOLOGY (2015)
PGM3 Mutations Cause a Congenital Disorder of Glycosylation with Severe Immunodeficiency and Skeletal Dysplasia
Asbjorg Stray-Pedersen et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2014)
Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency
Monique Van Scherpenzeel et al.
BRAIN (2014)
ALG1-CDG: A new case with early fatal outcome
A. -K. Rohlfing et al.
GENE (2014)
N-glycosylation deficiency reduces ICAM-1 induction and impairs inflammatory response
Ping He et al.
GLYCOBIOLOGY (2014)
Congenital disorder of fucosylation type 2c (LADII) presenting with short stature and developmental delay with minimal adhesion defect
Andrew Dauber et al.
HUMAN MOLECULAR GENETICS (2014)
Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment
Yu Zhang et al.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2014)
Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels
Atfa Sassi et al.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2014)
Skin manifestations in CDG
D. Rymen et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2014)
Congenital disorders of glycosylation: new defects and still counting
Kyle Scott et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2014)
N-Glycan Abnormalities in Children with Galactosemia
Karen P. Coss et al.
JOURNAL OF PROTEOME RESEARCH (2014)
Glycosylation, Hypogammaglobulinemia, and Resistance to Viral Infections
Mohammed A. Sadat et al.
NEW ENGLAND JOURNAL OF MEDICINE (2014)
29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype
Marie-Lorraine Monin et al.
ORPHANET JOURNAL OF RARE DISEASES (2014)
Diagnosis of ALG12-CDG by exome sequencing in a case of severe skeletal dysplasia
Chaya Murali et al.
MOLECULAR GENETICS AND METABOLISM REPORTS (2014)
XLID-Causing Mutations and Associated Genes Challenged in Light of Data From Large-Scale Human Exome Sequencing
Amelie Piton et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
Impaired NADPH oxidase activity in peripheral blood lymphocytes of galactosemia patients
Mazen Al-Essa et al.
EXPERIMENTAL BIOLOGY AND MEDICINE (2013)
From discrete dilated cardiomyopathy to successful cardiac transplantation in congenital disorders of glycosylation due to dolichol kinase deficiency (DK1-CDG)
Livia Kapusta et al.
HEART FAILURE REVIEWS (2013)
A novel syndrome of hypohidrosis and intellectual disability is linked to COG6 deficiency
Ranad Shaheen et al.
JOURNAL OF MEDICAL GENETICS (2013)
Severe, fatal multisystem manifestations in a patient with dolichol kinase-congenital disorder of glycosylation
Michelle T. Lieu et al.
MOLECULAR GENETICS AND METABOLISM (2013)
GPI-anchor and GPI-anchored protein expression in PMM2-CDG patients
Maria E. de la Morena-Barrio et al.
ORPHANET JOURNAL OF RARE DISEASES (2013)
MAN1B1 Deficiency: An Unexpected CDG-II
Daisy Rymen et al.
PLOS GENETICS (2013)
Dendritic cells: a spot on sialic acid
Helio J. Crespo et al.
FRONTIERS IN IMMUNOLOGY (2013)
MGAT2-CDG (CDG-IIa) and dysmorphism
Jaak Jaeken
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2012)
The Role of Sugars in Dendritic Cell Trafficking
Zelia Silva et al.
ANNALS OF BIOMEDICAL ENGINEERING (2012)
Multifarious roles of sialic acids in immunity
Ajit Varki et al.
GLYCOBIOLOGY OF THE IMMUNE RESPONSE (2012)
Defining the Phenotype in Congenital Disorder of Glycosylation Due to ALG1 Mutations
Eva Morava et al.
PEDIATRICS (2012)
An Unusual Presentation of Galactosemia: Hemophagocytic Lymphohistiocytosis
Ahmet Afsin Kundak et al.
TURKISH JOURNAL OF HEMATOLOGY (2012)
Conserved oligomeric Golgi complex specifically regulates the maintenance of Golgi glycosylation machinery
Irina D. Pokrovskaya et al.
GLYCOBIOLOGY (2011)
Second messenger role for Mg2+ revealed by human T-cell immunodeficiency
Feng-Yen Li et al.
NATURE (2011)
Fatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylation
Juergen Luebbehusen et al.
HUMAN MOLECULAR GENETICS (2010)
Association of fungal sepsis and galactosemia
Sanjay Verma et al.
INDIAN JOURNAL OF PEDIATRICS (2010)
A Novel Role for the IgG Fc Glycan: The Anti-inflammatory Activity of Sialylated IgG Fcs
Robert M. Anthony et al.
JOURNAL OF CLINICAL IMMUNOLOGY (2010)
Congenital disorder of glycosylation Ia: New differentially expressed proteins identified by 2-DE
Eva Richard et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2009)
MGAT2 deficiency (CDG-IIa): The Life of J.
Paul de Cock et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2009)
CDG nomenclature: Time for a change!
Jaak Jaeken et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2009)
The clinical spectrum of phosphomannomutase 2 deficiency (CDG-Ia)
Stephanie Grunewald
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2009)
Long-term evolution of eight Spanish patients with CDG type Ia: Typical and atypical manifestations
B. Perez-Duenas et al.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2009)
Retinal hemorrhages associated with meningitis in a child with a congenital disorder of glycosylation
Beng Beng Ong et al.
FORENSIC SCIENCE MEDICINE AND PATHOLOGY (2009)
Severe Sepsis in Cirrhosis
Thierry Gustot et al.
HEPATOLOGY (2009)
Regulation of Notch signaling during T- and B-cell development by O-fucose glycans
Pamela Stanley et al.
IMMUNOLOGICAL REVIEWS (2009)
PSGL-1 function in immunity and steady state homeostasis
Douglas A. Carlow et al.
IMMUNOLOGICAL REVIEWS (2009)
Glycoimmunology: ignore at your peril!
Linda G. Baum et al.
IMMUNOLOGICAL REVIEWS (2009)
Glycosylation in immune cell trafficking
Markus Sperandio et al.
IMMUNOLOGICAL REVIEWS (2009)
Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation
Florence Molinari et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
The skeletal manifestations of the congenital disorders of glycosylation
D. Coman et al.
CLINICAL GENETICS (2008)
Pericardial and abdominal fluid accumulation in Congenital Disorder of Glycosylation type Ia
Gerben Truin et al.
MOLECULAR GENETICS AND METABOLISM (2008)
Risk assessment of acute vascular events in congenital disorder of glycosylation type Ia
J. B. Arnoux et al.
MOLECULAR GENETICS AND METABOLISM (2008)
Surface α2-3- and α2-6-sialylation of human monocytes and derived dendritic cells and its influence on endocytosis
Paula A. Videira et al.
GLYCOCONJUGATE JOURNAL (2008)
CD1 antigen presentation: how it works
Duarte C. Barral et al.
NATURE REVIEWS IMMUNOLOGY (2007)
Expanding spectrum of congenital disorder of glycosylation Ig (CDG-Ig):: Sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethality
Christian Kranz et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2007)
Congenital disorder of glycosylation type Ia presenting with hydrops fetalis
J. M. van de Kamp et al.
JOURNAL OF MEDICAL GENETICS (2007)
A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy
Christian Kranz et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Altered granulopoietic profile and exaggerated acute neutrophilic inflammation in mice with targeted deficiency in the sialyltransferase ST6Gal I
Mehrab Nasirikenari et al.
BLOOD (2006)
Classical galactosaemia revisited
Annet M. Bosch
JOURNAL OF INHERITED METABOLIC DISEASE (2006)
Recurrent infections and immunological dysfunction in congenital disorder of glycosylation la (CDG Ia)
C. Blank et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2006)
Leukocyte adhesion deficiency II patients with a dual defect of the GDP-fucose transporter
Yvonne Helmus et al.
BLOOD (2006)
Congenital disorder of glycosylation (CDG) Ig: Report on a patient and review of the literature
M Di Rocco et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2005)
Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations
G Vogt et al.
NATURE GENETICS (2005)
Unusual presentation of congenital disorder of glycosylationtype 1a: congenital persistent thrombocytopenia, hypertrophic cardiomyopathy and hydrops-like aspect due to marked peripheral oedema
V Noelle et al.
EUROPEAN JOURNAL OF PEDIATRICS (2005)
Molecular and clinical description of the first US patients with congenital disorder of glycosylation Ig
EA Eklund et al.
MOLECULAR GENETICS AND METABOLISM (2005)
Congenital disorder of glycosylation type Ik (CDG-Ik): A defect of mannosyltransferase I
C Kranz et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2004)
Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik
CE Grubenmann et al.
HUMAN MOLECULAR GENETICS (2004)
Detailed glycan analysis of serum glycoproteins of patients with congenital disorders of glycosylation indicates the specific defective glycan processing step and provides an insight into pathogenesis
M Butler et al.
GLYCOBIOLOGY (2003)
Insights into leukocyte adhesion deficiency type 2 from a novel mutation in the GDP-fucose transporter gene
A Hidalgo et al.
BLOOD (2003)
Deficiency of dolichyl-P-Man:: Man7GlcNAc2-PP-dolichyl mannosyltransferase causes congenital disorder of glycosylation type Ig
C Thiel et al.
BIOCHEMICAL JOURNAL (2002)
ALG12 mannosyltransferase defect in congenital disorder of glycosylation type Ig
CE Grubenmann et al.
HUMAN MOLECULAR GENETICS (2002)
Congenital disorders of glycosylation type ig is defined by a deficiency in dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl mannosyltransferase
I Chantret et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2002)
Congenital disorder of glycosylation type Ia (CDG-Ia): phenotypic spectrum of the R141H/F119L genotype
S Kjaergaard et al.
ARCHIVES OF DISEASE IN CHILDHOOD (2001)
Increased α3-fucosylation of α1-acid glycoprotein in patients with congenital disorder of glycosylation type IA (CDG-Ia)
W Van Dijk et al.
FEBS LETTERS (2001)
A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases
P de Lonlay et al.
JOURNAL OF MEDICAL GENETICS (2001)
Discontinuation of fucose therapy in LADII causes rapid loss of selectin ligands and rise of leukocyte counts
K Luhn et al.
BLOOD (2001)
Defect in N-glycosylation of proteins is tissue-dependent in congenital disorders of glycosylation Ia
T Dupré et al.
GLYCOBIOLOGY (2000)
A novel disorder caused by defective biosynthesis of N-linked oligosaccharides due to glucosidase I deficiency
CM De Praeter et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2000)
The ST3Gal-I sialyltransferase controls CD8(+) T lymphocyte homeostasis by modulating O-glycan biosynthesis
JJ Priatel et al.
IMMUNITY (2000)
Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1
F Imtiaz et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2000)