Congenital disorder of glycosylation type Ix: review of clinical spectrum and diagnostic steps (Q37171897)

18 August 2017

Congenital disorder of glycosylation type Ix: review of clinical spectrum and diagnostic steps (English)

1 reference

congenital disorder of glycosylation

18 August 2017

0 references

0 references

1 reference

1 reference

1 reference

inferred from title

author

Jolanta Sykut-Cegielska

6

object named as

J Sykut-Cegielska

1 reference

18 August 2017

E Morava

1

1 reference

18 August 2017

H Wosik

2

1 reference

18 August 2017

J Kárteszi

3

1 reference

18 August 2017

M Guillard

4

1 reference

18 August 2017

M Adamowicz

5

1 reference

18 August 2017

K Hadzsiev

7

1 reference

18 August 2017

R A Wevers

8

1 reference

18 August 2017

D J Lefeber

9

1 reference

18 August 2017

20 May 2008

1 reference

Journal of Inherited Metabolic Disease

18 August 2017

1 reference

18 August 2017

31

1 reference

18 August 2017

3

1 reference

18 August 2017

450-456

1 reference

https://scigraph.springernature.com/pub.10.1007/s10545-008-0822-0

18 August 2017

0 references

cites work

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

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10545-008-0822-0

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

21 January 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Recurrent nonimmune hydrops fetalis associated with carbohydrate-deficient glycoprotein syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Congenital disorder of glycosylation (CDG) Ig: report on a patient and review of the literature

1 reference

12 December 2020

Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: an updated nomenclature for CDG. First International Workshop on CDGS.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Intracranial hemorrhage as the initial manifestation of a congenital disorder of glycosylation

1 reference

12 December 2020

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

1 reference

12 December 2020

[Failure to thrive and intestinal diseases in congenital disorders of glycosylation]

1 reference

12 December 2020

Ophthalmic manifestations of congenital disorder of glycosylation type 1a.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Disorders in protein glycosylation and potential therapy: tip of an iceberg?

1 reference

12 December 2020

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

1 reference

12 December 2020

Scandinavian CDG-Ia patients: genotype/phenotype correlation and geographic origin of founder mutations

1 reference

12 December 2020

Diversity of congenital disorders of glycosylation

1 reference

12 December 2020

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

1 reference

12 December 2020

Congenital disorders of glycosylation

1 reference

12 December 2020

Congenital disorders of glycosylation: a review

1 reference

12 December 2020

A previously undescribed form of congenital disorder of glycosylation with variable presentation in siblings: early fetal loss with hydrops fetalis, and infant death with hypoproteinemia

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

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

1 reference

12 December 2020

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

1 reference

12 December 2020

10.1007/S10545-008-0822-0

Identifiers

DOI

1 reference

18 August 2017

1 reference