Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region-Reference-Cited by-同舟云学术

Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region

Published:2022-01-27 Issue:2 Volume:63 Page:146-161
ISSN:2192-8312
Container-title:JIMD Reports
language:en
Short-container-title:JIMD Reports

Author:

Martín‐Rivada Álvaro¹^ORCID,Palomino Pérez Laura¹,Ruiz‐Sala Pedro²,Navarrete Rosa²,Cambra Conejero Ana³,Quijada Fraile Pilar⁴,Moráis López Ana⁵,Belanger‐Quintana Amaya⁶,Martín‐Hernández Elena⁴,Bellusci Marcello⁴,Cañedo Villaroya Elvira¹,Chumillas Calzada Silvia⁴,García Silva María Teresa⁴,Bergua Martínez Ana⁵,Stanescu Sinziana⁶,Martínez‐Pardo Casanova Mercedes⁶,Ruano Miguel L. F.³,Ugarte Magdalena²,Pérez Belén²,Pedrón‐Giner Consuelo¹

Affiliation:

1. Sección de Gastroenterología y Nutrición Hospital Infantil Universitario Niño Jesús Madrid Spain

2. Centro de Diagnóstico de Enfermedades Moleculares Universidad Autónoma de Madrid, IdiPAZ, CIBERER Madrid Spain

3. Laboratorio de Cribado Neonatal de la Comunidad de Madrid Servicio de Bioquímica Clínica, Hospital General Universitario Gregorio Marañón Madrid Spain

4. Unidad de Enfermedades Mitocondriales‐Metabólicas Hereditarias Centro de Referencia Nacional (CSUR) y Europeo (MetabERN) en Enfermedades Metabólicas, Hospital Universitario 12 de Octubre Madrid Spain

5. Unidad de Nutrición Infantil y Enfermedades Metabólicas Hospital Universitario La Paz Madrid Spain

6. Centro de Referencia Nacional (CSUR) en Enfermedades Metabólicas Hospital Universitario Ramón y Cajal Madrid Spain

Publisher

Wiley

Subject

Biochemistry, Genetics and Molecular Biology (miscellaneous),Endocrinology, Diabetes and Metabolism,Internal Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12265

Reference62 articles.

1. A SIMPLE PHENYLALANINE METHOD FOR DETECTING PHENYLKETONURIA IN LARGE POPULATIONS OF NEWBORN INFANTS

2. Tandem mass spectrometry: A new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism

3. Screening blood spots for inborn errors of metabolism by electrospray tandem mass spectrometry with a microplate batch process and a computer algorithm for automated flagging of abnormal profiles

4. Use of Tandem Mass Spectrometry for Multianalyte Screening of Dried Blood Specimens from Newborns

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