Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency. (Q55057717)

http://europepmc.org/abstract/MED/24566669

16 June 2018

title

Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency. (English)

1 reference

http://europepmc.org/abstract/MED/24566669

16 June 2018

1 reference

intellectual disability

1 reference

based on heuristic

inferred from title

disability affecting intellectual abilities

1 reference

5

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7 June 2020

Ann Saada

9

1 reference

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7 June 2020

Paul J Hensbergen

22

1 reference

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Agnes L Hipgrave Ederveen

7 June 2020

6

1 reference

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7 June 2020

Simon Edvardson

10

1 reference

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7 June 2020

Dagmar Procházková

18

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7 June 2020

Nina Ondrušková

19

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7 June 2020

Gert Matthijs

23

1 reference

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7 June 2020

Joris A Veltman

25

1 reference

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7 June 2020

author name string

Monique Van Scherpenzeel

1

1 reference

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7 June 2020

Sharita Timal

2

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7 June 2020

Daisy Rymen

3

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7 June 2020

Stephanie Grunewald

7

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7 June 2020

Romain Peanne

8

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7 June 2020

Sabine Grønborg

11

1 reference

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7 June 2020

George Ruijter

12

1 reference

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7 June 2020

Anna Kattentidt-Mouravieva

13

1 reference

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7 June 2020

Jaime Moritz Brum

14

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7 June 2020

Mary-Louise Freckmann

15

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7 June 2020

Susan Tomkins

16

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7 June 2020

Anil Jalan

17

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7 June 2020

Michel A Willemsen

21

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7 June 2020

Ron A Wevers

24

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7 June 2020

Eva Morava

26

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7 June 2020

Dirk J Lefeber

27

1 reference

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7 June 2020

Alexander Hoischen

4

1 reference

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7 June 2020

Hana Hansikova

20

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7 June 2020

language of work or name

English

0 references

publication date

24 February 2014

1 reference

http://europepmc.org/abstract/MED/24566669

16 June 2018

published in

Brain

1 reference

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7 June 2020

volume

137

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7 June 2020

issue

Pt 4

1 reference

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7 June 2020

page(s)

1030-1038

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Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates

7 June 2020

cites work

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWU019

Congenital myasthenic syndromes due to mutations in ALG2 and ALG14.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWU019

Genetic basis of intellectual disability

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWU019

Understanding human glycosylation disorders: biochemistry leads the charge

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWU019

A defect in the TUSC3 gene is associated with autosomal recessive mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWU019

Automated measurement of permethylated serum N-glycans by MALDI-linear ion trap mass spectrometry

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWU019

ST3GAL3 mutations impair the development of higher cognitive functions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWU019

A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWU019

Mechanism of class 1 (glycosylhydrolase family 47) {alpha}-mannosidases involved in N-glycan processing and endoplasmic reticulum quality control

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWU019

Clinical features in adults with congenital disorders of glycosylation type Ia (CDG-Ia).

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWU019

Clinical and diagnostic approach in unsolved CDG patients with a type 2 transferrin pattern.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWU019

Intellectual disability and bleeding diathesis due to deficient CMP--sialic acid transport

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWU019

Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWU019

Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWU019

Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWU019

Targeted biomarker discovery by high throughput glycosylation profiling of human plasma alpha1-antitrypsin and immunoglobulin A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWU019

MAN1B1 deficiency: an unexpected CDG-II

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWU019

Mutations in ANTXR1 cause GAPO syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWU019

Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWU019

De novo mutations in human genetic disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWU019

A de novo paradigm for mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWU019

Derivatization of sialic acids for stabilization in matrix-assisted laser desorption/ionization mass spectrometry and concomitant differentiation of alpha(2 --> 3)- and alpha(2 --> 6)-isomers

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWU019

Congenital disorders of glycosylation and intellectual disability

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWU019

21 January 2018

Identifiers

DOI

10.1093/BRAIN/AWU019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24566669%20AND%20SRC:MED&resulttype=core&format=json

release_q67nvldizfauldkdiwyamz7kmy

7 June 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/q67nvldizfauldkdiwyamz7kmy

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24566669%20AND%20SRC:MED&resulttype=core&format=json