Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program-Reference-Cited by-同舟云学术

Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program

Published:2019-01-09 Issue:4 Volume:27 Page:556-562
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Navarrete Rosa,Leal Fátima,Vega Ana I.,Morais-López Ana,Garcia-Silva María Teresa,Martín-Hernández Elena,Quijada-Fraile Pilar,Bergua Ana,Vives Inmaculada,García-Jiménez Inmaculada,Yahyaoui Raquel,Pedrón-Giner Consuelo,Belanger-Quintana Amaya,Stanescu Sinziana,Cañedo Elvira,García-Campos Oscar,Bueno-Delgado María,Delgado-Pecellín Carmen,Vitoria Isidro,Rausell María Dolores,Balmaseda Elena,Couce Mari Luz,Desviat Lourdes R.^ORCID,Merinero Begoña,Rodríguez-Pombo Pilar,Ugarte Magdalena,Pérez-Cerdá Celia,Pérez Belén

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/s41431-018-0330-0.pdf

Reference33 articles.

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3. Couce ML, Sanchez-Pintos P, Diogo L, Leao-Teles E, Martins E, Santos H, et al. Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency. Orphanet J Rare Dis. 2013;8:102.

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5. Martinez-Morillo E, Prieto Garcia B, Alvarez Menendez FV. Challenges for Worldwide Harmonization of Newborn Screening Programs. Clin Chem. 2016;62:689–98.

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