Neonatal epileptic encephalopathy
Author:
Publisher
Elsevier BV
Subject
General Medicine
Reference4 articles.
1. Clinical and laboratory findings in twins with neonatal epileptic encephalopathy mimicking aromatic L-amino acid decarboxylase deficiency;Bräutigam;Neuropediatrics,2002
2. Aromatic L-amino acid decarboxylase deficiency: clinical features, diagnosis, and treatment of a new inborn error of neurotransmitter amine synthesis;Hyland;Neurology,1992
3. Pyridoxal phosphate-responsive epilepsy with resistance to pyridoxine;Kuo;Pediatr Neurol,2002
4. Absence of pyridoxine-5'-phosphate oxidase (PNPO) activity in neoplastic cells: isolation, characterization, and expression of PNPO cDNA;Ngo;Biochemistry,1998
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1. Phenotypic and molecular spectrum of pyridoxamine‐5′‐phosphate oxidase deficiency: A scoping review of 87 cases of pyridoxamine‐5′‐phosphate oxidase deficiency;Clinical Genetics;2020-09-16
2. Molecular characterization of pyridoxine 5′-phosphate oxidase and its pathogenic forms associated with neonatal epileptic encephalopathy;Scientific Reports;2020-08-12
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4. Pyridox(am)ine 5′-phosphate oxidase (PNPO) deficiency in zebrafish results in fatal seizures and metabolic aberrations;Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease;2020-03
5. Disorders of pyridoxine metabolism;Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease;2020
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