Adult-onset glutaric aciduria type I: rare presentation of a treatable disorder-Reference-Cited by-同舟云学术

Adult-onset glutaric aciduria type I: rare presentation of a treatable disorder

Published:2020-04-18 Issue:3 Volume:21 Page:179-186
ISSN:1364-6745
Container-title:neurogenetics
language:en
Short-container-title:Neurogenetics

Author:

Gelener Pınar^ORCID,Severino Mariasavina,Diker Sevda,Teralı Kerem,Tuncel Gulten,Tuzlalı Hatice,Manara Elena,Paolacci Stefano,Bertelli Matteo,Ergoren Mahmut Cerkez

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Genetics(clinical),Genetics

Link

https://link.springer.com/content/pdf/10.1007/s10048-020-00610-9.pdf

Reference37 articles.

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3. Zschocke J, Quak E, Guldberg P, Hoffmann GF (2000) Mutation analysis in glutaric aciduria type I. J Med Genet 37(3):177–181

4. Sauer SW, Okun JG, Fricker G, Mahringer A, Müller I, Crnic LR, Mühlhausen C, Hoffmann GF, Hörster F, Goodman SI, Harding CO, Koeller DM, Kölker S (2006) Intracerebral accumulation of glutaric and 3-hydroxyglutaric acids secondary to limited flux across the blood-brain barrier constitute a biochemical risk factor for neurodegeneration in glutaryl-CoA dehydrogenase deficiency. J Neurochem 97(3):899–910

5. Funk CB, Prasad AN, Frosk P, Sauer S, Kölker S, Greenberg CR, del Bigio M (2005) Neuropathological, biochemical and molecular findings in a glutaric acidemia type 1 cohort. Brain 128(Pt 4):711–722

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