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Systemic Manifestations in Pyridox(am)ine 5′-Phosphate Oxidase Deficiency
Réjean M. Guerriero
, Archana A. Patel
, Brian Walsh
, Fiona M. Baumer
, Ankoor S. Shah
, Jurriaan M. Peters
, Lance H. Rodan
, Pankaj B. Agrawal
, Phillip L. Pearl
, Masanori Takeoka
Institute of Clinical and Translational Sciences (ICTS)
Division of Pediatric and Developmental Neurology
Intellectual and Developmental Disabilities Research Center (IDDRC)
Section of Pediatric Epilepsy
Research output
:
Contribution to journal
›
Article
›
peer-review
16
Scopus citations
Overview
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Keyphrases
Phosphate
100%
Oxidase
100%
Systemic Manifestations
100%
Pyridoxal 5′-phosphate
71%
Retinopathy
42%
Epilepsy
42%
Neonatal Onset
28%
Anemia
28%
Movement Disorders
28%
Neurological Manifestations
28%
Developmental Delay
28%
Epileptic Encephalopathy
28%
Failure to Thrive
28%
Pyridoxine
28%
A-movement
28%
Active Form
14%
Proband
14%
Central Nervous System
14%
Biologically Active
14%
Severely Affected
14%
Disorganization
14%
Gene Coding
14%
Encephalopathy
14%
Clinical Spectrum
14%
Developmental Encephalopathy
14%
Elevated Alkaline Phosphatase
14%
Infantile Onset
14%
Homozygous mutation
14%
Epileptiform Discharges
14%
Electroencephalographic Features
14%
Sleep Features
14%
Biochemistry, Genetics and Molecular Biology
Oxidoreductase
100%
Oxidase
100%
Deficiency
100%
Pyridoxal Phosphate
71%
Peak Normalized Power Output
28%
Pyridoxine
28%
Vitamin B6
28%
Enzyme
14%
Proband
14%
Elevated Alkaline Phosphatase
14%