A new metabolic disorder in human cationic amino acid transporter-2 that mimics arginase 1 deficiency in newborn screening-Reference-Cited by-同舟云学术

A new metabolic disorder in human cationic amino acid transporter-2 that mimics arginase 1 deficiency in newborn screening

Published:2019-02-21 Issue:3 Volume:42 Page:407-413
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Yahyaoui Raquel¹²^ORCID,Blasco-Alonso Javier³,Benito Carmen⁴,Rodríguez-García Enrique²⁵,Andrade Fernando⁶,Aldámiz-Echevarría Luis⁶,Muñoz-Hernández María C.⁷,Vega Ana I.⁸,Pérez-Cerdá Celia⁸,García-Martín María L.⁷,Pérez Belén⁸

Affiliation:

1. Laboratory of Metabolic Disorders and Newborn Screening Center of Eastern Andalusia; Málaga Regional University Hospital; Málaga Spain

2. Grupo Endocrinología y Nutrición, Diabetes y Obesidad; Instituto de Investigación Biomédica de Málaga-IBIMA

3. Department of Pediatrics; Málaga Regional University Hospital; Málaga Spain

4. Department of Genetics; Málaga Regional University Hospital; Málaga Spain

5. Laboratorios Vircell; SL, Granada Spain

6. Metabolomics Platform, Metabolism Group; BioCruces Health Research Institute, CIBERER; Barakaldo Spain

7. BIONAND, Andalusian Center for Nanomedicine and Biotechnology, Junta de Andalucía; Universidad de Málaga; Málaga Spain

8. Centro Diagnóstico de Enfermedades Moleculares (CEDEM), Centro de Biología Molecular; Universidad Autónoma de Madrid, CIBERER, idiPAZ; Madrid Spain

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/jimd.12063/fullpdf

Reference25 articles.

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4. Newborn screening for hyperargininemia due to arginase 1 deficiency;Therrell;Mol Genet Metab,2017

5. Long-term neurodevelopmental effects of early detection and treatment in a 6-year-old patient with argininaemia diagnosed by newborn screening;Edwards;J Inherit Metab Dis,2009

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