Congenital disorders of glycosylation: The Saudi experience. (Q52761202)

http://europepmc.org/abstract/MED/28742265

7 May 2018

title

Congenital disorders of glycosylation: The Saudi experience. (English)

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http://europepmc.org/abstract/MED/28742265

7 May 2018

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9

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6 June 2020

Brahim Tabarki

17

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6 June 2020

author name string

Sarah Alsubhi

1

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6 June 2020

Amal Alhashem

2

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6 June 2020

Eissa Faqeih

3

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6 June 2020

Majid Alfadhel

4

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6 June 2020

Abdullah Alfaifi

5

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6 June 2020

Waleed Altuwaijri

6

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6 June 2020

Saud Alsahli

7

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6 June 2020

Hesham Aldhalaan

8

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6 June 2020

Khalid Hundallah

10

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6 June 2020

Adel Mahmoud

11

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6 June 2020

Ali Alasmari

12

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6 June 2020

Fuad Al Mutairi

13

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6 June 2020

Hanem Abduraouf

14

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6 June 2020

Layan AlRasheed

15

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6 June 2020

Saad Alshahwan

16

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6 June 2020

language of work or name

English

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publication date

25 July 2017

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http://europepmc.org/abstract/MED/28742265

7 May 2018

published in

American Journal of Medical Genetics

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6 June 2020

volume

173

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6 June 2020

page(s)

2614-2621

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6 June 2020

issue

10

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Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden

6 June 2020

cites work

1 reference

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A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report

21 January 2018

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Further Delineation of the ALG9-CDG Phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38358

Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy

21 January 2018

1 reference

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

21 January 2018

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Neurological aspects of human glycosylation disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38358

Further Delineation of the Phenotype of Congenital Disorder of Glycosylation DPAGT1-CDG (CDG-Ij) Identified by Homozygosity Mapping

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38358

Congenital disorders of glycosylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38358

Should PMM2-deficiency (CDG Ia) be searched in every case of unexplained hydrops fetalis?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38358

Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia)

21 January 2018

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Clinical and pathological heterogeneity of a congenital disorder of glycosylation manifesting as a myasthenic/myopathic syndrome.

21 January 2018

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Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations

21 January 2018

1 reference

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A Population-Based Study on Congenital Disorders of Protein N- and Combined with O-Glycosylation Experience in Clinical and Genetic Diagnosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38358

Congenital disorders of glycosylation: new defects and still counting

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38358

A novel syndrome of hypohidrosis and intellectual disability is linked to COG6 deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38358

Congenital disorder of glycosylation IIa: The trouble with diagnosing a dysmorphic inborn error of metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38358

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.38358

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28742265%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

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