PubMed (Bookshelf cited) for id: 124337

Year	Number of Results
1975	2
1980	1
1991	2
1994	1
1995	2
1996	1
1997	1
1998	2
1999	1
2000	5
2002	1
2003	1
2004	6
2005	1
2006	3
2007	5
2008	1
2009	1
2010	2
2011	3
2012	8
2013	7
2014	5
2015	10
2016	6
2017	7
2018	2
2019	1
2020	1
2024	0

1

The Human Gene Mutation Database (HGMD^®): optimizing its use in a clinical diagnostic or research setting.

Stenson PD, Mort M, Ball EV, Chapman M, Evans K, Azevedo L, Hayden M, Heywood S, Millar DS, Phillips AD, Cooper DN. Stenson PD, et al. Hum Genet. 2020 Oct;139(10):1197-1207. doi: 10.1007/s00439-020-02199-3. Epub 2020 Jun 28. Hum Genet. 2020. PMID: 32596782 Free PMC article. Review.

2

Patterns, evolution, and severity of striatal injury in insidious- vs acute-onset glutaric aciduria type 1.

Boy N, Garbade SF, Heringer J, Seitz A, Kölker S, Harting I. Boy N, et al. J Inherit Metab Dis. 2019 Jan;42(1):117-127. doi: 10.1002/jimd.12033. J Inherit Metab Dis. 2019. PMID: 30740735

3

Malignant brain tumors in patients with glutaric aciduria type I.

Serrano Russi A, Donoghue S, Boneh A, Manara R, Burlina AB, Burlina AP. Serrano Russi A, et al. Mol Genet Metab. 2018 Nov;125(3):276-280. doi: 10.1016/j.ymgme.2018.08.006. Epub 2018 Aug 27. Mol Genet Metab. 2018. PMID: 30217722

4

Newborn screening: A disease-changing intervention for glutaric aciduria type 1.

Boy N, Mengler K, Thimm E, Schiergens KA, Marquardt T, Weinhold N, Marquardt I, Das AM, Freisinger P, Grünert SC, Vossbeck J, Steinfeld R, Baumgartner MR, Beblo S, Dieckmann A, Näke A, Lindner M, Heringer J, Hoffmann GF, Mühlhausen C, Maier EM, Ensenauer R, Garbade SF, Kölker S. Boy N, et al. Ann Neurol. 2018 May;83(5):970-979. doi: 10.1002/ana.25233. Epub 2018 Apr 30. Ann Neurol. 2018. PMID: 29665094

5

Genetic Screening of Selected Disease-Causing Mutations in Glutaryl-CoA Dehydrogenase Gene among Indian Patients with Glutaric Aciduria Type I.

Tp KV, Muntaj S, Devaraju KS, Kamate M, Vedamurthy AB. Tp KV, et al. J Pediatr Genet. 2017 Sep;6(3):142-148. doi: 10.1055/s-0037-1599202. Epub 2017 Mar 7. J Pediatr Genet. 2017. PMID: 28794906 Free PMC article.

6

Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity.

Boy N, Heringer J, Brackmann R, Bodamer O, Seitz A, Kölker S, Harting I. Boy N, et al. Orphanet J Rare Dis. 2017 Apr 24;12(1):77. doi: 10.1186/s13023-017-0612-6. Orphanet J Rare Dis. 2017. PMID: 28438223 Free PMC article.

7

Clinical and laboratory analysis of late-onset glutaric aciduria type I (GA-I) in Uighur: A report of two cases.

Zhang X, Luo Q. Zhang X, et al. Exp Ther Med. 2017 Feb;13(2):560-566. doi: 10.3892/etm.2016.4007. Epub 2016 Dec 28. Exp Ther Med. 2017. PMID: 28352331 Free PMC article.

8

Experiences during newborn screening for glutaric aciduria type 1: Diagnosis, treatment, genotype, phenotype, and outcomes.

Tsai FC, Lee HJ, Wang AG, Hsieh SC, Lu YH, Lee MC, Pai JS, Chu TH, Yang CF, Hsu TR, Lai CJ, Tsai MT, Ho PH, Lin MC, Cheng LY, Chuang YC, Niu DM. Tsai FC, et al. J Chin Med Assoc. 2017 Apr;80(4):253-261. doi: 10.1016/j.jcma.2016.07.006. Epub 2017 Mar 13. J Chin Med Assoc. 2017. PMID: 28302372 Free article.

9

Disease-causing mutations affecting surface residues of mitochondrial glutaryl-CoA dehydrogenase impair stability, heteromeric complex formation and mitochondria architecture.

Schmiesing J, Lohmöller B, Schweizer M, Tidow H, Gersting SW, Muntau AC, Braulke T, Mühlhausen C. Schmiesing J, et al. Hum Mol Genet. 2017 Feb 1;26(3):538-551. doi: 10.1093/hmg/ddw411. Hum Mol Genet. 2017. PMID: 28062662

10

Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision.

Boy N, Mühlhausen C, Maier EM, Heringer J, Assmann B, Burgard P, Dixon M, Fleissner S, Greenberg CR, Harting I, Hoffmann GF, Karall D, Koeller DM, Krawinkel MB, Okun JG, Opladen T, Posset R, Sahm K, Zschocke J, Kölker S; Additional individual contributors. Boy N, et al. J Inherit Metab Dis. 2017 Jan;40(1):75-101. doi: 10.1007/s10545-016-9999-9. Epub 2016 Nov 16. J Inherit Metab Dis. 2017. PMID: 27853989 Review.

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