casos Tag

IMPORTANCIA DE LA DETECCIÓN PRECOZ EN ACIDURIA GLUTÁRICA TIPO I 2010

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23 enero, 2025 / 0 Comments

Evaluation of the first 5 years of a glutaric aciduria type I neonatal screening programme in Asturias 2024

07 mayo, 2024 / 0 Comments

57. Cribado metabÓlico neonatal ampliado en galicia. 16 años de experiencia 2017

28 abril, 2023 / 0 Comments

Aciduria glutárica tipo 1 en la era del cribado neonatal ampliado 2017

28 abril, 2023 / 0 Comments

P213 – White Matter Disorders in a Serie of 150 Patients With Metabolic Disease

26 abril, 2023 / 0 Comments

Intraventricular Baclofen for Treatment of Severe Dystonia Associated with Glutaryl CoA Dehydrogenase Deficiency (GA1): Report of Two Cases 2016

05 marzo, 2023 / 0 Comments

PROGRAMA DE CRIBADO NEONATAL DEL SISTEMA NACIONAL DE SALUD. INFORME DE EVALUACION AÑO 2018

05 marzo, 2023 / 0 Comments

The Longitudinal Pediatric Data Resource: Facilitating Longitudinal Collection of Health Information to Inform Clinical Care and Guide Newborn Screening Efforts 2021

04 marzo, 2023 / 0 Comments

GP225 BETTER OUTCOMES OF ‘HIGH-RISK’ SCREENED GLUTARIC ACIDURIA TYPE 1 PATIENTS GIVE OPTIMISM TO FUTURE CASES DIAGNOSED THROUGH NEWBORN SCREENING IN IRELAND 2019

04 marzo, 2023 / 0 Comments

Glutaric aciduria type I: outcome following detection by newborn screening 2008

04 marzo, 2023 / 0 Comments