Identification of a novel biomarker for pyridoxine-dependent epilepsy: Implications for newborn screening-Reference-Cited by-同舟云学术

Identification of a novel biomarker for pyridoxine-dependent epilepsy: Implications for newborn screening

Published:2019-03-11 Issue:3 Volume:42 Page:565-574
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Wempe Michael F.¹,Kumar Amit¹,Kumar Vijay¹,Choi Yu J.¹,Swanson Michael A.²,Friederich Marisa W.²,Hyland Keith³,Yue Wyatt W.⁴,Van Hove Johan L. K.²,Coughlin Curtis R.²^ORCID

Affiliation:

1. School of Pharmacy, Department of Pharmaceutical Sciences; University of Colorado; Aurora Colorado

2. Department of Pediatrics, Section of Clinical Genetics and Metabolism; University of Colorado School of Medicine; Aurora Colorado

3. Medical Neurogenetics Laboratories, LLC; Atlanta Georgia

4. Structural Genomics Consortium, Nuffield Department of Clinical Medicine; University of Oxford; Oxford UK

Funder

Pyridoxine-Dependent Epilepsy Foundation

National Institutes of Health

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/jimd.12059/fullpdf

Reference41 articles.

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2. Clinical features and the management of pyridoxine-dependent and pyridoxine-responsive seizures: review of 63 North American cases submitted to a patient registry;Basura;Eur J Pediatr,2009

3. Long-term outcome in pyridoxine-dependent epilepsy;Bok;Dev Med Child Neurol,2012

4. Mutations in antiquitin in individuals with pyridoxine-dependent seizures;Mills;Nat Med,2006

5. The measurement of urinary Δ1-piperideine-6-carboxylate, the alter ego of α-aminoadipic semialdehyde, in Antiquitin deficiency;Struys;J Inherit Metab Dis,2012

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