(Q45574122)

14 December 2017

A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism (English)

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13 May 2020

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3

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13 May 2020

Jolanta Sykut-Cegielska

11

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13 May 2020

Jorieke Bergman

17

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13 May 2020

Hans van Bokhoven

18

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13 May 2020

15

Jeroen van Reeuwijk

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13 May 2020

4

Lies H Hoefsloot

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13 May 2020

24

Arjan P M de Brouwer

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13 May 2020

2

Ron A Wevers

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13 May 2020

author name string

Eva Morava

1

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13 May 2020

Jeroen Schoots

6

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13 May 2020

Arno van Rooij

7

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13 May 2020

Karin Huijben

8

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13 May 2020

Connie M A van Ravenswaaij-Arts

9

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13 May 2020

Marjolein C J Jongmans

10

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13 May 2020

Georg F Hoffmann

12

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13 May 2020

Peter Bluemel

13

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13 May 2020

Maciej Adamowicz

14

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13 May 2020

Bobby G Ng

16

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13 May 2020

Christian Körner

19

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13 May 2020

Dusica Babovic-Vuksanovic

20

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13 May 2020

Michel A Willemsen

21

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13 May 2020

Ludwig Lehle

23

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13 May 2020

Dirk J Lefeber

25

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13 May 2020

Lihadh Al-Gazali

5

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13 May 2020

Joseph G Gleeson

22

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13 May 2020

language of work or name

English

0 references

publication date

17 September 2010

1 reference

14 December 2017

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13 May 2020

volume

133

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13 May 2020

issue

11

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13 May 2020

page(s)

3210-3220

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

13 May 2020

cites work

1 reference

12 December 2020

Optimized separation and quantitation of serum and cerebrospinal fluid transferrin subfractions defined by differences in iron saturation or glycan composition

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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

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

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

Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

1 reference

12 December 2020

Cerebral, cerebellar, and colobomatous anomalies in three related males: Sex-linked inheritance in a newly recognized syndrome with features overlapping with Joubert syndrome.

1 reference

12 December 2020

Biosynthesis of lipid-linked oligosaccharides in Saccharomyces cerevisiae: Alg13p and Alg14p form a complex required for the formation of GlcNAc(2)-PP-dolichol

1 reference

12 December 2020

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

1 reference

12 December 2020

An apparent homozygous X-linked disorder with carbohydrate-deficient serum glycoproteins

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12 December 2020

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

1 reference

12 December 2020

CHARGE syndrome: an update

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12 December 2020

A simple salting out procedure for extracting DNA from human nucleated cells

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12 December 2020

Linkage analysis with multiplexed short tandem repeat polymorphisms using infrared fluorescence and M13 tailed primers.

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12 December 2020

Comparison of 12 reference genes for normalization of gene expression levels in Epstein-Barr virus-transformed lymphoblastoid cell lines and fibroblasts

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12 December 2020

Laboratory diagnosis of congenital disorders of glycosylation type I by analysis of transferrin glycoforms

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12 December 2020

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

1 reference

12 December 2020

Distribution, metabolism and function of dolichol and polyprenols

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Ophthalmic manifestations of congenital disorder of glycosylation type 1a.

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12 December 2020

Screening for CDG type Ia in Joubert syndrome

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12 December 2020

Altered glycan structures: the molecular basis of congenital disorders of glycosylation

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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

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

1 reference

12 December 2020

CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene

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12 December 2020

Normal N-oligosaccharyltransferase activity in fibroblasts from patients with carbohydrate-deficient glycoprotein syndrome

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12 December 2020

Ophthalmological abnormalities in children with congenital disorders of glycosylation type I.

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12 December 2020

A robust algorithm for copy number detection using high-density oligonucleotide single nucleotide polymorphism genotyping arrays

1 reference

12 December 2020

Primer3 on the WWW for general users and for biologist programmers

1 reference

12 December 2020

PLINK: a tool set for whole-genome association and population-based linkage analyses

1 reference

12 December 2020

Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies

1 reference

12 December 2020

Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides

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12 December 2020

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

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12 December 2020

Congenital disorders of glycosylation: a rapidly expanding disease family

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12 December 2020

Modulation of non-templated nucleotide addition by Taq DNA polymerase: primer modifications that facilitate genotyping

1 reference

12 December 2020

The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.

1 reference

12 December 2020

Arts syndrome is caused by loss-of-function mutations in PRPS1

1 reference

12 December 2020

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

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12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1093/BRAIN/AWQ261

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6276930&resulttype=core&format=json

13 May 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6276930&resulttype=core&format=json

13 May 2020

1 reference