(Q37850730)

24 August 2017

1 reference

title

Congenital disorders of glycosylation (CDG): it's (nearly) all in it! (English)

1 reference

24 August 2017

0 references

1 reference

Jaak Jaeken

1

1 reference

24 August 2017

publication date

8 March 2011

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Journal of Inherited Metabolic Disease

24 August 2017

published in

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24 August 2017

volume

34

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24 August 2017

issue

4

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24 August 2017

page(s)

853-858

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A new autosomal recessive syndrome of ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities in an inbred Emirati family.

24 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9299-3

Inherited glycosylphosphatidyl inositol deficiency: a treatable CDG.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9299-3

Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9299-3

The clinical spectrum of phosphomannose isomerase deficiency, with an evaluation of mannose treatment for CDG-Ib

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9299-3

Congenital dyserythropoietic anemia type II (CDAII/HEMPAS): where are we now?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9299-3

COG defects, birth and rise!

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9299-3

Leukocyte adhesion deficiency type II: long-term follow-up and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9299-3

Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9299-3

Human RFT1 deficiency leads to a disorder of N-linked glycosylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9299-3

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9299-3

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9299-3

On the nomenclature of congenital disorders of glycosylation (CDG).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9299-3

CDG nomenclature: time for a change!

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9299-3

RFT1-CDG: deafness as a novel feature of congenital disorders of glycosylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9299-3

An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9299-3

Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9299-3

A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9299-3

Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9299-3

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9299-3

Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9299-3

Defective protein glycosylation in patients with cutis laxa syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9299-3

A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9299-3

Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9299-3

Molecular and clinical characterization of a Moroccan Cog7 deficient patient

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9299-3

Deficiency in COG5 causes a moderate form of congenital disorders of glycosylation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9299-3

Golgi function and dysfunction in the first COG4-deficient CDG type II patient

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9299-3

A severe human metabolic disease caused by deficiency of the endoplasmatic mannosyltransferase hALG11 leads to congenital disorder of glycosylation-Ip

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9299-3

Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9299-3

Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9299-3

RFT1 deficiency in three novel CDG patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9299-3

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9299-3

A new mutation in COG7 extends the spectrum of COG subunit deficiencies

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9299-3

Does Rft1 flip an N-glycan lipid precursor?

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21384229

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21384229

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21384229

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S10545-011-9299-3

1 reference

24 August 2017

1 reference