Evaluation of the first 5 years of a glutaric aciduria type I neonatal screening programme in Asturias-Reference-Cited by-同舟云学术

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Evaluation of the first 5 years of a glutaric aciduria type I neonatal screening programme in Asturias

Published:2024-05 Issue:5 Volume:100 Page:318-324
ISSN:2341-2879
Container-title:Anales de Pediatría (English Edition)
language:en
Short-container-title:Anales de Pediatría (English Edition)

Author:

Elola Pastor Ana Isabel,Prieto García Belén,Díaz Martín Juan José

Publisher

Elsevier BV

Reference25 articles.

1. Aciduria glutárica tipo 1. Aciduria glutárica tipo 3. Acidurias 2-hidroxiglutáricas. Enfermedad de Canavan;Pilar Quijada,2022

2. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype;Kölker;J Inherit Metab Dis,2015

3. Macrocefalia como forma de presentación de la aciduria glutárica tipo 1. Importancia de un diagnóstico precoz;Martínez Granero;Neurología.,2005

4. Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I);Kölker;J Inherit Metab Dis.,2007

5. Protocolo de diagnóstico, tratamiento y seguimiento de aciduria glutárica tipo 1;Ribes,2018

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