(Q35188324)

7 August 2017

Komrower Lecture. Congenital disorders of glycosylation (CDG): it's all in it! (English)

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7 August 2017

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Jaeken J

1

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7 August 2017

1 January 2003

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Journal of Inherited Metabolic Disease

7 August 2017

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7 August 2017

26

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7 August 2017

2-3

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7 August 2017

99-118

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https://scigraph.springernature.com/pub.10.1023/a:1024431131208

7 August 2017

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cites work

Increased alpha3-fucosylation of alpha(1)-acid glycoprotein in patients with congenital disorder of glycosylation type IA (CDG-Ia).

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12 December 2020

Congenital disorders of glycosylation: glycosylation defects in man and biological models for their study

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12 December 2020

Neuronal migration disorders in man.

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12 December 2020

Recurrent nonimmune hydrops fetalis associated with carbohydrate-deficient glycoprotein syndrome

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12 December 2020

A neurodystrophic syndrome resembling carbohydrate-deficient glycoprotein syndrome type III.

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12 December 2020

MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If

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12 December 2020

Biological roles of oligosaccharides: all of the theories are correct

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12 December 2020

Conditional control of selectin ligand expression and global fucosylation events in mice with a targeted mutation at the FX locus

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12 December 2020

Neonatal severe intractable diarrhoea as the presenting manifestation of an unclassified congenital disorder of glycosylation (CDG-x).

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12 December 2020

Protein glucosylation and its role in protein folding

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12 December 2020

Human disorders in N-glycosylation and animal models

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12 December 2020

Congenital disorders of glycosylation: the rapidly growing tip of the iceberg

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12 December 2020

A novel disorder caused by defective biosynthesis of N-linked oligosaccharides due to glucosidase I deficiency

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12 December 2020

Update and perspectives on congenital disorders of glycosylation

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12 December 2020

A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases

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12 December 2020

A new case of CDG-x with stereotyped dystonic hand movements and optic atrophy

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12 December 2020

Genetic and metabolic analysis of the first adult with congenital disorder of glycosylation type Ib: long-term outcome and effects of mannose supplementation

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12 December 2020

A new subtype of a congenital disorder of glycosylation (CDG) with mild clinical manifestations.

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12 December 2020

Congenital disorder of glycosylation (CDG) type Ie. A new patient

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12 December 2020

Band 3 glycoprotein and glycophorin A from erythrocytes of children with congenital disorder of glycosylation type-Ia are underglycosylated

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12 December 2020

Modeling human congenital disorder of glycosylation type IIa in the mouse: conservation of asparagine-linked glycan-dependent functions in mammalian physiology and insights into disease pathogenesis

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12 December 2020

Carbohydrate-deficient glycoprotein syndrome: normal glycosylation in the fetus

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12 December 2020

Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C

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12 December 2020

A genetic defect in the biosynthesis of dermatan sulfate proteoglycan: galactosyltransferase I deficiency in fibroblasts from a patient with a progeroid syndrome

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12 December 2020

A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If)

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12 December 2020

Deficiency of alpha-dystroglycan in muscle-eye-brain disease.

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12 December 2020

Budd-Chiari syndrome associated with coagulation abnormalities in a child with carbohydrate deficient glycoprotein syndrome type Ix

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12 December 2020

Congenital disorders of glycosylation type Ia and IIa are associated with different primary haemostatic complications.

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12 December 2020

Prepubertal growth in congenital disorder of glycosylation type Ia (CDG-Ia)

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12 December 2020

Protein glycosylation and diseases: blood and urinary oligosaccharides as markers for diagnosis and therapeutic monitoring

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12 December 2020

A new variant of the carbohydrate deficient glycoproteins syndrome

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12 December 2020

Congenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl mannosyltransferase

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12 December 2020

Oral mannose therapy persistently corrects the severe clinical symptoms and biochemical abnormalities of phosphomannose isomerase deficiency

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12 December 2020

Clinical and molecular features of congenital disorder of glycosylation in patients with type 1 sialotransferrin pattern and diverse ethnic origins.

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12 December 2020

Transporters of nucleotide sugars, ATP, and nucleotide sulfate in the endoplasmic reticulum and Golgi apparatus

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12 December 2020

Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy

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12 December 2020

Carbohydrate-deficient glycoprotein syndrome type 1 with profound thrombocytopenia and normal phosphomannomutase and phosphomannose isomerase activities

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12 December 2020

Defective glycosylation in muscular dystrophy

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12 December 2020

Brief report: recurrent severe infections caused by a novel leukocyte adhesion deficiency

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12 December 2020

Hereditary multiple exostoses and heparan sulfate polymerization

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12 December 2020

The microheterogeneity of human transferrins in biological fluids

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12 December 2020

Congenital disorders involving defective N-glycosylation of proteins

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12 December 2020

The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy

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12 December 2020

Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I

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12 December 2020

Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1

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12 December 2020

The 'yellow brick road' to branched complex N-glycans

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12 December 2020

Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome

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12 December 2020

Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation

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12 December 2020

Negative regulation of T-cell activation and autoimmunity by Mgat5 N-glycosylation

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12 December 2020

Electrospray ionization-mass spectrometric analysis of serum transferrin isoforms in patients with carbohydrate-deficient glycoprotein syndrome

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12 December 2020

Full circle to cobbled brain.

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12 December 2020

Deficiency of dolichyl-P-Man:Man7GlcNAc2-PP-dolichyl mannosyltransferase causes congenital disorder of glycosylation type Ig

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12 December 2020

The galactosyltransferase family

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12 December 2020

Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie)

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12 December 2020

Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan

1 reference

12 December 2020

Carbohydrate-deficient glycoprotein syndrome: beyond the screen

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12 December 2020

Assembly of asparagine-linked oligosaccharides

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12 December 2020

Carbohydrate-deficient glycoprotein syndrome with previously unreported features

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12 December 2020

Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease.

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12 December 2020

Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized genetic syndrome

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12 December 2020

Carbohydrate-deficient glycoprotein syndrome--a fourth subtype

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12 December 2020

Glycoconjugate abnormalities in patients with congenital dyserythropoietic anaemia type I, II and III

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12 December 2020

Truncated, inactive N-acetylglucosaminyltransferase III (GlcNAc-TIII) induces neurological and other traits absent in mice that lack GlcNAc-TIII.

1 reference

12 December 2020

A deficiency in dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl alpha3-glucosyltransferase defines a new subtype of congenital disorders of glycosylation

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12 December 2020

Mannose corrects altered N-glycosylation in carbohydrate-deficient glycoprotein syndrome fibroblasts

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12 December 2020

ALG12 mannosyltransferase defect in congenital disorder of glycosylation type lg

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12 December 2020

Congenital disorders of glycosylation (CDG) may be underdiagnosed when mimicking mitochondrial disease

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12 December 2020

Transmembrane movement of dolichol linked carbohydrates during N-glycoprotein biosynthesis in the endoplasmic reticulum

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12 December 2020

Assessment of skeletal status in patients with congenital disorder of glycosylation type IA

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12 December 2020

Glycosyltransferase mutants: key to new insights in glycobiology

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12 December 2020

Congenital disorders of glycosylation: genetic model systems lead the way.

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12 December 2020

Hyperglycinaemia in a child with carbohydrate-deficient glycoprotein syndrome type I

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12 December 2020

Direct utilization of mannose for mammalian glycoprotein biosynthesis

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12 December 2020

Congenital disorders of glycosylation IIa cause growth retardation, mental retardation, and facial dysmorphism

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12 December 2020

Diversity of congenital disorders of glycosylation

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12 December 2020

Deficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId.

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12 December 2020

Congenital disorders of glycosylation type I leads to altered processing of N-linked glycans, as well as underglycosylation

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12 December 2020

Growth retardation and early death of beta-1,4-galactosyltransferase knockout mice with augmented proliferation and abnormal differentiation of epithelial cells

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12 December 2020

Increased biosynthesis of glycosphingolipids in congenital disorder of glycosylation Ia (CDG-Ia) fibroblasts

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12 December 2020

A novel disorder of N-glycosylation due to phosphomannose isomerase deficiency

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12 December 2020

Clinical and biochemical characteristics of congenital disorder of glycosylation type Ic, the first recognized endoplasmic reticulum defect in N-glycan synthesis.

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12 December 2020

Structures and functions of the sugar chains of glycoproteins

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12 December 2020

Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies

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12 December 2020

Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy.

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12 December 2020

Congenital disorders of glycosylation

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12 December 2020

Congenital disorders of glycosylation: a review

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12 December 2020

Glycosylation and the immune system

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12 December 2020

The gene defective in leukocyte adhesion deficiency II encodes a putative GDP-fucose transporter

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12 December 2020

Natural history study of hereditary multiple exostoses

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12 December 2020

Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency

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12 December 2020

Selective deficiency of alpha-dystroglycan in Fukuyama-type congenital muscular dystrophy

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12 December 2020

Carbohydrate deficient glycoprotein syndrome type IV: deficiency of dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase

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12 December 2020

Congenital disorder of glycosylation type Ia (CDG-Ia): phenotypic spectrum of the R141H/F119L genotype

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12 December 2020

Structure of serum transferrin in carbohydrate-deficient glycoprotein syndrome

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12 December 2020

Congenital disorder of glycosylation IId (CDG-IId) -- a new entity: clinical presentation with Dandy-Walker malformation and myopathy

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12 December 2020

Successful treatment of carbohydrate deficient glycoprotein syndrome type 1b with oral mannose

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12 December 2020

Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)

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12 December 2020

Concepts and principles of O-linked glycosylation

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12 December 2020

Genetic remodeling of protein glycosylation in vivo induces autoimmune disease

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12 December 2020

Carbohydrate deficient glycoprotein syndrome type II: a deficiency in Golgi localised N-acetyl-glucosaminyltransferase II.

1 reference

12 December 2020

A novel carbohydrate-deficient glycoprotein syndrome characterized by a deficiency in glucosylation of the dolichol-linked oligosaccharide

1 reference

12 December 2020

Characterization of POMT2, a novel member of the PMT protein O-mannosyltransferase family specifically localized to the acrosome of mammalian spermatids

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12 December 2020

Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes

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12 December 2020

Hyperinsulinemic hypoglycemia as a presenting sign in phosphomannose isomerase deficiency: A new manifestation of carbohydrate-deficient glycoprotein syndrome treatable with mannose

1 reference

12 December 2020

Impairment of the Golgi GDP-L-fucose transport and unresponsiveness to fucose replacement therapy in LAD II patients

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12 December 2020

Molecular basis for the progeroid variant of Ehlers-Danlos syndrome. Identification and characterization of two mutations in galactosyltransferase I gene

1 reference

12 December 2020

Processing of N-linked carbohydrate chains in a patient with glucosidase I deficiency (CDG type IIb)

1 reference

12 December 2020

High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency).

1 reference

12 December 2020

Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie

1 reference

12 December 2020

Measurement of neurotransmitter metabolites in the cerebrospinal fluid of phenylketonuric patients under dietary treatment

1 reference

Crossref

https://api.crossref.org/works/10.1023%2FA%3A1024431131208

7 January 2021

inferred from DOI database lookup

The pathology of N-glycosylation--stay the middle, avoid the risks

1 reference

Crossref

https://api.crossref.org/works/10.1023%2FA%3A1024431131208

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1023/A:1024431131208

1 reference

PubMed ID

12889654

Dimensions Publication ID

7 August 2017

0 references

1 reference

PubMed ID

12889654