glutaric aciduria

نتایج جستجو برای: glutaric aciduria

تعداد نتایج: 1568 فیلتر نتایج به سال:

Interaction of Glutaric Aciduria Type 1-Related glutaryl-CoA Dehydrogenase with Mitochondrial Matrix Proteins

Journal: :PLoS ONE 2014

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Complementation studies of isovaleric acidemia and glutaric aciduria type II using cultured skin fibroblasts.

Journal: :Journal of Clinical Investigation 1983

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Hypothesis: A Role for Quinolinic Acid in the Neuropathology of Glutaric Aciduria Type I

Journal: :Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 1987

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Glutaric Aciduria Type 1 Metabolites Impair the Succinate Transport from Astrocytic to Neuronal Cells

Journal: :Journal of Biological Chemistry 2011

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Teaching NeuroImages: Infant with glutaric aciduria type 1 presenting with infantile spasms and hypsarrhythmia

Journal: :Neurology 2013

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Specific glutaryl-CoA dehydrogenating activity is deficient in cultured fibroblasts from glutaric aciduria patients.

Journal: :Journal of Clinical Investigation 1984

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Sudden cardiac arrest during induction of anaesthesia in paediatric patient with glutaric aciduria type II

Journal: :Sudanese Journal of Paediatrics 2020

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

Journal: :International Journal of Neonatal Screening 2021

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The anaesthetic management of temporal tumor resection in a patient with type 1 glutaric aciduria

Journal: :Turkish Journal of Anesthesia and Reanimation 2013

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Ten novelHMGCLmutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria

Journal: :Human Mutation 2009

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