Phenotypic and molecular spectrum of pyridoxamine‐5′‐phosphate oxidase deficiency: A scoping review of 87 cases of pyridoxamine‐5′‐phosphate oxidase deficiency-Reference-Cited by-同舟云学术

Phenotypic and molecular spectrum of pyridoxamine‐5′‐phosphate oxidase deficiency: A scoping review of 87 cases of pyridoxamine‐5′‐phosphate oxidase deficiency

Published:2020-09-16 Issue:1 Volume:99 Page:99-110
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Alghamdi Malak¹²^ORCID,Bashiri Fahad A.²³^ORCID,Abdelhakim Marwa⁴,Adly Nouran⁵,Jamjoom Dima Z.⁶,Sumaily Khalid M.⁷,Alghanem Bandar⁸,Arold Stefan T.⁹¹⁰

Affiliation:

1. Medical Genetics Division, Department of Pediatrics, College of Medicine King Saud University Riyadh Saudi Arabia

2. Department of Pediatrics King Saud University Medical City Riyadh Saudi Arabia

3. Neurology division, Department of Pediatrics, College of Medicine King Saud University Riyadh Saudi Arabia

4. Computer, Electrical and Mathematical Science and Engineering Division (CEMSE), Computational Bioscience Research Center (CBRC) King Abdullah University of Science and Technology (KAUST) Thuwal Saudi Arabia

5. College of Medicine Research Center, College of Medicine King Saud University Riyadh Saudi Arabia

6. Department of Radiology and Medical Imaging, College of Medicine King Saud University Riyadh Saudi Arabia

7. Clinical Biochemistry Unit, Department of Laboratory Medicine King Saud University Medical City, King Saud University Riyadh Saudi Arabia

8. Medical Research Core Facility and Platforms (MRCFP) King Abdullah International Medical, Research Center/King Saud bin Abdulaziz University for Health Sciences (KSAU‐HS), King, Abdulaziz Medical City (KAMC), NGHA Riyadh Saudi Arabia

9. Computational Bioscience, Research Center (CBRC); Division of Biological and Environmental Sciences and Engineering, (BESE) King Abdullah University of Science and Technology (KAUST) Thuwal Saudi Arabia

10. Centre de Biochimie Structurale, CNRS, INSERM Université de Montpellier Montpellier France

Funder

King Abdullah University of Science and Technology

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13843

Reference43 articles.

1. Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5′-phosphate oxidase

2. Clinical and Laboratory Findings in Twins with Neonatal Epileptic Encephalopathy Mimicking Aromatic L-Amino Acid Decarboxylase Deficiency