| 1 | GA1, GCDH
|
| Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH).
|
| Keyser B, Mühlhausen C, Dickmanns A, Christensen E, Muschol N, Ullrich K, Braulke T.
|
| Hum Mol Genet 17(24):3854-63. Epub 2008 Sep 5.
2008
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| 2 | GA1, GCDH
|
| Multimodal imaging of striatal degeneration in Amish patients with glutaryl-CoA dehydrogenase deficiency.
|
| Strauss KA, Lazovic J, Wintermark M, Morton DH.
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| Brain 130(Pt 7):1905-20. Epub 2007 May 3.
2007
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| 3 | GA1
|
| Adult onset glutaric aciduria type I presenting with a leukoencephalopathy.
|
| Bähr O, Mader I, Zschocke J, Dichgans J, Schulz JB.
|
| Neurology 59(11):1802-4.
2002
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| 4 | GA1, GCDH
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| Gene structure and mutations of glutaryl-coenzyme A dehydrogenase: impaired association of enzyme subunits that is due to an A421V substitution causes glutaric acidemia type I in the Amish.
|
| Biery BJ, Stein DE, Morton DH, Goodman SI.
|
| Am J Hum Genet 59(5):1006-11.
1996
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| 5 | GA1, GCDH
|
| Dystonia and dyskinesia in glutaric aciduria type I: clinical heterogeneity and therapeutic considerations.
|
| Kyllerman M, Skjeldal OH, Lundberg M, Holme I, Jellum E, von Döbeln U, Fossen A, Carlsson G.
|
| Mov Disord 9(1):22-30.
1994
|