Pyridox(am)ine 5′-phosphate oxidase (PNPO) deficiency in zebrafish results in fatal seizures and metabolic aberrations-Reference-Cited by-同舟云学术

Pyridox(am)ine 5′-phosphate oxidase (PNPO) deficiency in zebrafish results in fatal seizures and metabolic aberrations

Published:2020-03 Issue:3 Volume:1866 Page:165607
ISSN:0925-4439
Container-title:Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
language:en
Short-container-title:Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Author:

Ciapaite Jolita,Albersen Monique,Savelberg Sanne M.C.,Bosma Marjolein,Tessadori Federico,Gerrits Johan,Lansu Nico,Zwakenberg Susan,Bakkers Jeroen P.W.,Zwartkruis Fried J.T.,van Haaften Gijs,Jans Judith J.,Verhoeven-Duif Nanda M.

Funder

Wilhelmina Children's hospital

Publisher

Elsevier BV

Subject

Molecular Biology,Molecular Medicine

Reference58 articles.

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2. Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5′-phosphate oxidase;Mills;Hum. Mol. Genet.,2005

3. Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome;Mills;Brain,2014

4. Pyridoxine responsiveness in novel mutations of the PNPO gene;Plecko;Neurology,2014

5. Pyridoxine-5′-phosphate oxidase (Pnpo) deficiency: clinical and biochemical alterations associated with the C.347g>A (P. Arg116gln) mutation;di Salvo;Mol. Genet. Metab.,2017

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