Familias GA | ácido 3 hidroxiglutárico

P96 Nerve Cell Lesions Caused by 3OH-Glutaric Acid: A Possible Mechanism for Neurodegeneration in Glutaric Acidemia I? pag 48 1996

Nerve Cell Lesions Caused by 3OH Glutaric Acid A Possible Mechanism for 1996 FIott-Rahmel B*, Falter C*, Piste! A*, MuKhoff U #, and Uilrich K* *Dept. of Pediatrics, #lest of Physiology, University of M~nster, Germany The mechanisms leading to neurodegeneration in glutaric acidemia type I (GA I) have...

07 abril, 2023 / 0 Comentario

Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families 2021

Glutaric Aciduria Type I Missed by Newborn Screening Report...

04 marzo, 2023 / 0 Comentario

145-P 3 hydroxiglutaric acid impairs the supply of succinate from astrocytes to neurons 2007

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

04 marzo, 2023 / 0 Comentario

JIMD 2007

002-P The investigation of inherited metabolic disease in post mortem samples 019-P Enzymatic analysiss of MCAD, VLCAD, Glutaryl CoA dehydrogenase (GCDH), and isovaleryl CoA dehydrogenase (IVD) in lymphocytes with implications for neonatal screening 021-P More than one GCDH mutation causes glutaric aciduria type 1...

03 marzo, 2023 / 0 Comentario