(Q36634791)

15 August 2017

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title

Congenital disorders of N-glycosylation including diseases associated with O- as well as N-glycosylation defects (English)

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15 August 2017

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Jules G Leroy

1

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15 August 2017

language of work or name

English

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publication date

25 October 2006

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15 August 2017

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15 August 2017

volume

60

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15 August 2017

issue

6

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15 August 2017

page(s)

643-656

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https://scigraph.springernature.com/pub.10.1203/01.pdr.0000246802.57692.ea

15 August 2017

exact match

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cites work

What's new in congenital disorders of glycosylation?

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https://api.crossref.org/works/10.1203%2F01.PDR.0000246802.57692.EA

The dolichol pathway of N-linked glycosylation

21 January 2018

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

21 January 2018

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Congenital disorders of glycosylation

21 January 2018

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

21 January 2018

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https://api.crossref.org/works/10.1203%2F01.PDR.0000246802.57692.EA

Roles of N-linked glycans in the endoplasmic reticulum

21 January 2018

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https://api.crossref.org/works/10.1203%2F01.PDR.0000246802.57692.EA

The carbohydrate-deficient glycoprotein syndromes: an overview

21 January 2018

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https://api.crossref.org/works/10.1203%2F01.PDR.0000246802.57692.EA

Carbohydrate-deficient glycoprotein syndromes: peculiar group of new disorders

21 January 2018

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https://api.crossref.org/works/10.1203%2F01.PDR.0000246802.57692.EA

Early manifestations of the carbohydrate-deficient glycoprotein syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000246802.57692.EA

Carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase-deficiency).

21 January 2018

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https://api.crossref.org/works/10.1203%2F01.PDR.0000246802.57692.EA

Carbohydrate-deficient glycoprotein syndromes: inborn errors of protein glycosylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000246802.57692.EA

Congenital disorder of glycosylation type 1a in a macrosomic 16-month-old boy with an atypical phenotype and homozygosity of the N216I mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000246802.57692.EA

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

21 January 2018

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https://api.crossref.org/works/10.1203%2F01.PDR.0000246802.57692.EA

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

21 January 2018

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https://api.crossref.org/works/10.1203%2F01.PDR.0000246802.57692.EA

Phosphomannomutase deficiency: the molecular basis of the classical Jaeken syndrome (CDGS type Ia)

21 January 2018

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https://api.crossref.org/works/10.1203%2F01.PDR.0000246802.57692.EA

Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A

21 January 2018

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https://api.crossref.org/works/10.1203%2F01.PDR.0000246802.57692.EA

Detailed mapping of the phosphomannomutase 2 (PMM2) gene and mutation detection enable improved analysis for Scandinavian CDG type I families

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000246802.57692.EA

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

21 January 2018

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https://api.crossref.org/works/10.1203%2F01.PDR.0000246802.57692.EA

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

21 January 2018

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https://api.crossref.org/works/10.1203%2F01.PDR.0000246802.57692.EA

Purification, cDNA cloning and heterologous expression of human phosphomannose isomerase

21 January 2018

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Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib).

21 January 2018

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Secretory diarrhea with protein-losing enteropathy, enterocolitis cystica superficialis, intestinal lymphangiectasia, and congenital hepatic fibrosis: a new syndrome

21 January 2018

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https://api.crossref.org/works/10.1203%2F01.PDR.0000246802.57692.EA

Protein losing enteropathy-hepatic fibrosis syndrome in Saguenay-Lac St-Jean, Quebec is a congenital disorder of glycosylation type Ib.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000246802.57692.EA

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000246802.57692.EA

Carbohydrate-deficient glycoprotein syndrome type V: deficiency of dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000246802.57692.EA

A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000246802.57692.EA

Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic

21 January 2018

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https://api.crossref.org/works/10.1203%2F01.PDR.0000246802.57692.EA

Carbohydrate-deficient glycoprotein syndrome--a fourth subtype

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000246802.57692.EA

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000246802.57692.EA

Congenital disorder of glycosylation id presenting with hyperinsulinemic hypoglycemia and islet cell hyperplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000246802.57692.EA

Congenital disorder of glycosylation type Id: clinical phenotype, molecular analysis, prenatal diagnosis, and glycosylation of fetal proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000246802.57692.EA

CDG-Id caused by homozygosity for an ALG3 mutation due to segmental maternal isodisomy UPD3(q21.3-qter).

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000246802.57692.EA

An activated 5' cryptic splice site in the human ALG3 gene generates a premature termination codon insensitive to nonsense-mediated mRNA decay in a new case of congenital disorder of glycosylation type Id (CDG-Id)

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000246802.57692.EA

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000246802.57692.EA

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000246802.57692.EA

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000246802.57692.EA

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000246802.57692.EA

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000246802.57692.EA

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000246802.57692.EA

ALG12 mannosyltransferase defect in congenital disorder of glycosylation type lg

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000246802.57692.EA

Molecular and clinical description of the first US patients with congenital disorder of glycosylation Ig.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000246802.57692.EA

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000246802.57692.EA

Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency)

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000246802.57692.EA

Congenital disorder of glycosylation (CDG)-Ih patient with a severe hepato-intestinal phenotype and evolving central nervous system pathology.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000246802.57692.EA

A new type of congenital disorders of glycosylation (CDG-Ii) provides new insights into the early steps of dolichol-linked oligosaccharide biosynthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000246802.57692.EA

Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) causes a novel congenital disorder of Glycosylation Type Ij

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000246802.57692.EA

Congenital disorder of glycosylation type Ik (CDG-Ik): a defect of mannosyltransferase I

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000246802.57692.EA

Deficiency of GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase causes congenital disorder of glycosylation type Ik.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000246802.57692.EA

Identification and functional analysis of a defect in the human ALG9 gene: definition of congenital disorder of glycosylation type IL.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000246802.57692.EA

CDG-IL: an infant with a novel mutation in the ALG9 gene and additional phenotypic features.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000246802.57692.EA

Patients with unsolved congenital disorders of glycosylation type II can be subdivided in six distinct biochemical groups

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000246802.57692.EA

Apolipoprotein C-III isofocusing in the diagnosis of genetic defects in O-glycan biosynthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000246802.57692.EA

A COG in the sugar machine

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000246802.57692.EA

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000246802.57692.EA

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000246802.57692.EA

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000246802.57692.EA

Localization of the human glucosidase I gene to chromosome 2p12-p13 by fluorescence in situ hybridization and PCR analysis of somatic cell hybrids

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000246802.57692.EA

Cloning and expression of glucosidase I from human hippocampus

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000246802.57692.EA

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000246802.57692.EA

Rambam-Hasharon syndrome of psychomotor retardation, short stature, defective neutrophil motility, and Bombay phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000246802.57692.EA

Insights into leukocyte adhesion deficiency type 2 from a novel mutation in the GDP-fucose transporter gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000246802.57692.EA

Leukocyte adhesion deficiency (LAD) type II/carbohydrate deficient glycoprotein (CDG) IIc founder effect and genotype/phenotype correlation

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000246802.57692.EA

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000246802.57692.EA

Identification of the full-length coding sequence for human galactosyltransferase (beta-N-acetylglucosaminide: beta 1,4-galactosyltransferase)

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000246802.57692.EA

Genomic structure and expression of human beta-1,4-galactosyltransferase

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000246802.57692.EA

Genetic complementation reveals a novel human congenital disorder of glycosylation of type II, due to inactivation of the Golgi CMP-sialic acid transporter

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000246802.57692.EA

Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000246802.57692.EA

Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000246802.57692.EA

Retrograde transport on the COG railway.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000246802.57692.EA

Characterization of a mammalian Golgi-localized protein complex, COG, that is required for normal Golgi morphology and function

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000246802.57692.EA

The COG and COPI complexes interact to control the abundance of GEARs, a subset of Golgi integral membrane proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000246802.57692.EA

10.1203/01.PDR.0000246802.57692.EA

21 January 2018

Identifiers

DOI

1 reference

Dimensions Publication ID

15 August 2017

1019224663

0 references

1 reference