Familias GA | Boy N.

Development of neuropsychological functions in patients with glutaric aciduria type I 2017

Development of neuropsychological functions in patients with glutaric aciduria type I Abstracts of the 52nd Workshop for 2017...

24 marzo, 2023 / 0 Comentario

How longitudinal observational studies can guide screening strategy for rare diseases 2022

How longitudinal observational studies can guide screening strategy for rare...

04 marzo, 2023 / 0 Comentario

149-O Decline of encephalopathic crisas in children with GA1 identified by newborn screening in Germany 2007

GA1 a report of 8 cases 2007 pag 38...

04 marzo, 2023 / 0 Comentario

A cross-sectional controlled developmental study of neuropsychological functions in patients with glutaric aciduria type I 2015

Across-sectionalcontrolleddevelopmental studyofneuropsychologicalfunctionsin 2015...

02 marzo, 2023 / 0 Comentario

O-030 Development of neuropsychological functions in patients with glutaric aciduria type I

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

Subdural hematoma in glutaric aciduria type 1: High excreters are prone to incidental SDH despite newborn screening 2021

Subdural hematoma in glutaric aciduria type 1...

02 noviembre, 2021 / 0 Comentario

Newborn Screening for Glutaric Aciduria Type I Benefits and limitations 2015

Newborn Screening for Glutaric Aciduria Type I 2015...

11 mayo, 2021 / 0 Comentario

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