ALG13‐CDG in a male with seizures, normal cognitive development, and normal transferrin isoelectric focusing-Reference-Cited by-同舟云学术

ALG13‐CDG in a male with seizures, normal cognitive development, and normal transferrin isoelectric focusing

Published:2017-08-04 Issue:10 Volume:173 Page:2772-2775
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Gadomski Therese E.¹²,Bolton Melody¹,Alfadhel Majid³,Dvorak Chris¹,Ogunsakin Olalekan A.¹,Nelson Stephen L.²,Morava Eva¹²^ORCID

Affiliation:

1. Hayward Genetics CenterTulane University School of MedicineNew OrleansLouisiana

2. Department of PediatricsTulane University School of MedicineNew OrleansLouisiana

3. Division of Genetics, Department of Pediatrics, King Abdullah International Medical Research Centre, King Abdulaziz Medical CityKing Saud bin Abdulaziz University for Health SciencesRiyadhSaudi Arabia

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.38377

Reference15 articles.

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4. Dörre K. Olczak M. Wada Y. Sosicka P Grüneberg M Reunert J …Marquardt T. (2015). A new case of UDP‐galactose transporter deficiency (SLC35A2‐CDG): Molecular basis clinical phenotype and therapeutic approach.Journal of Inherited Metabolic Diseases 38(5) 931–940.

5. Solving Glycosylation Disorders: Fundamental Approaches Reveal Complicated Pathways

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