| 1 | GA1, GCDH
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| Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH).
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| Keyser B, Mühlhausen C, Dickmanns A, Christensen E, Muschol N, Ullrich K, Braulke T.
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| Hum Mol Genet 17(24):3854-63. Epub 2008 Sep 5.
2008
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| 2 | GA1, GCDH
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| Multimodal imaging of striatal degeneration in Amish patients with glutaryl-CoA dehydrogenase deficiency.
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| 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 | ETFA, ETFB, ETFDH, GCDH, GLUTA1
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| Glutaric acidemia type 1.
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| Hedlund GL, Longo N, Pasquali M.
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| Am J Med Genet C Semin Med Genet 142(2):86-94. Review. 2006
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| 4 | GCDH
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| Crystal structures of human glutaryl-CoA dehydrogenase with and without an alternate substrate: structural bases of dehydrogenation and decarboxylation reactions.
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| Fu Z, Wang M, Paschke R, Rao KS, Frerman FE, Kim JJ.
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| Biochemistry 43(30):9674-84. 2004
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| 5 | GCDH
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| Mutation Analysis of the GCDH Gene in Italian and Portuguese Patients with Glutaric Aciduria Type I.
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| Busquets C, Soriano M, de Almeida IT, Garavaglia B, Rimoldi M, Rivera I, Uziel G, Cabral A, Coll MJ, Ribes A.
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| Mol Genet Metab 71(3):535-537. 2000
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| 6 | GCDH, GLUTA1
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| Glutaryl-CoA Dehydrogenase Deficiency Presenting as 3-Hydroxyglutaric Aciduria.
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| Nyhan WL, et al.
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| Mol Genet Metab 66 : 199-204. 1999
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| 7 | GCDH, GLUTA1
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| The human glutaryl-CoA dehydrogenase gene : report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I.
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| Schwartz M, et al.
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| Hum Genet 102 : 452-458. 1998
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| 8 | GCDH, GLUTA1
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| Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I) : review and report of thirty novel mutations.
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| Goodman SI, et al.
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| Hum Mutat 12 : 141-144. 1998
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| 9 | GCDH, GLUTA1
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| Novel mutations of the glutaryl-CoA dehydrogenase gene in two Japanese patients with glutaric aciduria type I.
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| Ikeda H, et al.
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| Am J Med Genet 80 : 327-329. 1998
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| 10 | GCDH, GLUTA1
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| Compound heterozygosity in the glutaryl-CoA dehydrogenase gene with R227P mutation in one allele is associated with no or very low free glutarate excretion.
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| Christensen E, Ribes A, Busquets C, Pineda M, Duran M, Poll-The BT, Greenberg CR, Leffers H, Schwartz M.
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| J Inherit Metab Dis 20(3):383-6. No abstract available. 1997
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| 11 | GCDH, GLUTA1
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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.
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| Biery BJ, et al.
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| Am J Hum Genet 59 : 1006-1011. 1996
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| 12 | GCDH, GLUTA1
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| Glutaric aciduria type I in the Arab and Jewish communities in Israel.
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| Anikster Y, et al.
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| Am J Hum Genet 59 : 1012-1018. 1996
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| 13 | 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.
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| Biery BJ, Stein DE, Morton DH, Goodman SI.
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| Am J Hum Genet 59(5):1006-11.
1996
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| 14 | GCDH, GLUTA1
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| A G-to-T transversion at the +5 position of intron 1 in the glutaryl CoA dehydrogenase gene is associated with the island lake variant of glutaric acidemia type I.
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| Greenberg CR, et al.
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| Hum Mol Genet 4 : 493-495. 1995
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| 15 | GCDH
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| Cloning of glutaryl-CoA dehydrogenase cDNA and expression of wild type and mutant enzymes in Escherichia coli.
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| Goodman SI, et al.
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| Hum Mol Genet 4 : 1493-1498. 1995
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| 16 | GCDH
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| Taql polymorphism in intron 2 of the GCDH gene.
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| Haworth JC, et al.
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| Hum Mol Genet 3 : 678. 1994
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| 17 | GCDH, GLUTA1
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| Assignment of human glutaryl-CoA dehydrogenase gene (GCDH) to the short arm of chromosome 19 (19p13.2) by in situ hybridization an somatic cell hybrid analysis.
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| Greenberg CR, et al.
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| Genomics 21 : 289-290. 1994
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| 18 | GA1, GCDH
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| Dystonia and dyskinesia in glutaric aciduria type I: clinical heterogeneity and therapeutic considerations.
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| Kyllerman M, Skjeldal OH, Lundberg M, Holme I, Jellum E, von Döbeln U, Fossen A, Carlsson G.
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| Mov Disord 9(1):22-30.
1994
|