Congenital disorders of glycosylation: The Saudi experience-Reference-Cited by-同舟云学术

Congenital disorders of glycosylation: The Saudi experience

Published:2017-07-25 Issue:10 Volume:173 Page:2614-2621
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Alsubhi Sarah¹,Alhashem Amal²,Faqeih Eissa³,Alfadhel Majid⁴,Alfaifi Abdullah⁴,Altuwaijri Waleed⁵,Alsahli Saud⁴,Aldhalaan Hesham⁶,Alkuraya Fowzan S.⁷⁸^ORCID,Hundallah Khalid¹,Mahmoud Adel³,Alasmari Ali³,Mutairi Fuad Al⁴,Abduraouf Hanem²,AlRasheed Layan²,Alshahwan Saad¹,Tabarki Brahim¹^ORCID

Affiliation:

1. Division of Pediatric NeurologyDepartment of Pediatrics, Prince Sultan Military Medical CityRiyadhSaudi Arabia

2. Division of GeneticsDepartment of Pediatrics; Prince Sultan Military Medical CityRiyadhSaudi Arabia

3. Department of Pediatric SubspecialtiesChildren's Hospital, King Fahad Medical CityRiyadhSaudi Arabia

4. Division of GeneticsDepartment of Pediatrics, King Abdulaziz Medical CityRiyadhSaudi Arabia

5. Division of Pediatric NeurologyDepartment of Pediatrics, King Abdulaziz Medical CityRiyadhSaudi Arabia

6. Division of Pediatric NeurologyDepartment of Neurosciences, King Faisal Specialist Hospital and Research CenterRiyadhSaudi Arabia

7. Department of GeneticsKing Faisal Specialist Hospital and Research CenterRiyadhSaudi Arabia

8. Department of Anatomy and Cell BiologyCollege of Medicine, Alfaisal UniversityRiyadhSaudi Arabia

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.38358

Reference19 articles.

1. Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden

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

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

4. Further Delineation of the ALG9-CDG Phenotype

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

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