EIM Tag

Ethnic variability in newborn metabolic screening markers associated with false-positive outcomes 2020

Ethnic variability in newborn metabolic screening markers...

26 abril, 2023 / 0 Comentario

Patrones Neurorradiológicos en las Enfermedades Metabólicas Hereditarias: Claves Diagnósticas

Patrones Neurorradiológicos en las Enfermedades Metabólicas 2019 Aciduria Glutárica Tipo 1. Trastorno autosómico recesivo causado por déficit de la enzima mitocondrial glutaril-coenzima A deshidrogenasa, dando lugar a acumulación de ácido glutárico, lo que resulta en fallo de la operculización en el 3º trimestre de vida fetal. Clínicamente...

26 abril, 2023 / 0 Comentario

Neurophysiologic features in glutaric aciduria type I 2005

Neurophysiologic_features_in_glutaric_ac...

07 abril, 2023 / 0 Comentario

Neuromonitoring in Rare Disorders of Metabolism 2021

Neuromonitoring in Rare Disorders of 2021...

07 abril, 2023 / 0 Comentario

Neuroimaging fndings of inborn errors of metabolism: urea cycle disorders, aminoacidopathies, and organic acidopathies 2023

MRS features during encephalopathic crisis period in 11years old case with GA-1 2015...

07 abril, 2023 / 0 Comentario

Neonatal Urine Screening Program in the Province of Quebec: Technological Upgrade from Thin Layer Chromatography to Tandem Mass Spectrometry 2021

Neonatal Urine Screening Program in the Province of Quebec 2021...

07 abril, 2023 / 0 Comentario

Monitoring of home safety issues in children on enteral feeds with inherited metabolic disorders 2009

Monitoring of home safety issues in children on enteral feeds 2009...

07 abril, 2023 / 0 Comentario

Innovative strategies to treat protein misfolding in inborn errors of metabolism: pharmacological chaperones and proteostasis regulators 2014

Innovative strategies to treat protein misfolding in inborn errors 2014...

07 abril, 2023 / 0 Comentario

The microbiome and inborn errors of metabolism: Why we should look carefully at their interplay? 2018

microbiota en EIM...

05 abril, 2023 / 0 Comentario

1H-Nuclear Magnetic Resonance Analysis of Urine as Diagnostic Tool for Organic Acidemias and Aminoacidopathies 2021

metabolites-11-00891...

05 abril, 2023 / 0 Comentario

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