Familias GA | Boy N.

O-030 Development of neuropsychological functions in patients with glutaric aciduria type I Boy N1 , Heringer J1 , Haege G1 , Glahn E1 , Hoffmann G F1, Garbade S F2 , Kölker S1 , Burgard P1 1 Div Neuroped Metab Med, Univ Child Hosp, Heidelberg, Germany, 2...

10 octubre, 2022 / 0 Comentario

150-O Decline of encephalopathic crises in children with glutaric aciduria type 1 identified by newborn screening Germany 2007

150-O Decline of encephalopathic crises in children with glutaric aciduria type 1 identified by newborn screening Germany 2007 ...

05 octubre, 2022 / 0 Comentario

Age-Related Changes and Reference Values of Bicaudate Ratio and Sagittal Brainstem Diameters on MRI 2018

Age Related Changes and Reference Values of Bicaudate Ratio and Sagittal Brainstem Diameters on MRI 2018...

27 septiembre, 2022 / 0 Comentario

FV 754. Newborn Screening, a Disease-Modifying Intervention for Glutaric Aciduria Type 1 2018

Abstract: La aciduria glutárica tipo 1 (GA1, OMIM #231670) es un trastorno neurometabólico hereditario raro del metabolismo de L-lisina, L-hidroxilisina y L-triptófano debido a la deficiencia de glutaril-CoA deshidrogenasa que resulta en la acumulación de glutaril-CoA, ácido glutárico ( GA) y ácido 3-hidroxiglutárico (3-OH-GA), especialmente...

20 julio, 2022 / 0 Comentario

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