PubMed (cited) for id: 246450

Year	Number of Results
1976	3
1979	3
1980	1
1981	1
1984	2
1986	2
1988	3
1990	2
1991	1
1992	1
1993	1
1996	1
1998	2
2000	1
2015	1
2017	1
2022	1
2024	0

1

Cardiac-specific deficiency of 3-hydroxy-3-methylglutaryl coenzyme A lyase in mice causes cardiomyopathy and a distinct pattern of acyl-coenzyme A-related biomarkers.

Yang H, Wang Y, Tang MC, Waters P, Wang S, Allard P, Ryan RO, Nuyt AM, Paradis P, Schiffrin EL, Furtos A, Mitchell GA. Yang H, et al. Mol Genet Metab. 2022 Nov;137(3):257-264. doi: 10.1016/j.ymgme.2022.09.008. Epub 2022 Sep 30. Mol Genet Metab. 2022. PMID: 36228350

2

3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients.

Grünert SC, Schlatter SM, Schmitt RN, Gemperle-Britschgi C, Mrázová L, Balcı MC, Bischof F, Çoker M, Das AM, Demirkol M, de Vries M, Gökçay G, Häberle J, Uçar SK, Lotz-Havla AS, Lücke T, Roland D, Rutsch F, Santer R, Schlune A, Staufner C, Schwab KO, Mitchell GA, Sass JO. Grünert SC, et al. Mol Genet Metab. 2017 Jul;121(3):206-215. doi: 10.1016/j.ymgme.2017.05.014. Epub 2017 May 22. Mol Genet Metab. 2017. PMID: 28583327

3

Disturbance of redox homeostasis as a contributing underlying pathomechanism of brain and liver alterations in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.

Leipnitz G, Vargas CR, Wajner M. Leipnitz G, et al. J Inherit Metab Dis. 2015 Nov;38(6):1021-8. doi: 10.1007/s10545-015-9863-3. Epub 2015 Jun 4. J Inherit Metab Dis. 2015. PMID: 26041581 Review.

4

Molecular and clinical analysis of Japanese patients with 3-hydroxy-3-methylglutaryl CoA lyase (HL) deficiency.

Muroi J, Yorifuji T, Uematsu A, Shigematsu Y, Onigata K, Maruyama H, Nobutoki T, Kitamura A, Nakahata T. Muroi J, et al. Hum Genet. 2000 Oct;107(4):320-6. doi: 10.1007/s004390000363. Hum Genet. 2000. PMID: 11129331

5

3-Hydroxy-3-methylglutaryl-CoA lyase (HL): gene targeting causes prenatal lethality in HL-deficient mice.

Wang SP, Marth JD, Oligny LL, Vachon M, Robert MF, Ashmarina L, Mitchell GA. Wang SP, et al. Hum Mol Genet. 1998 Dec;7(13):2057-62. doi: 10.1093/hmg/7.13.2057. Hum Mol Genet. 1998. PMID: 9817922

6

HMG CoA lyase deficiency: identification of five causal point mutations in codons 41 and 42, including a frequent Saudi Arabian mutation, R41Q.

Mitchell GA, Ozand PT, Robert MF, Ashmarina L, Roberts J, Gibson KM, Wanders RJ, Wang S, Chevalier I, Plöchl E, Miziorko H. Mitchell GA, et al. Am J Hum Genet. 1998 Feb;62(2):295-300. doi: 10.1086/301730. Am J Hum Genet. 1998. PMID: 9463337 Free PMC article.

7

3-Hydroxy-3-methylglutaryl CoA lyase (HL): mouse and human HL gene (HMGCL) cloning and detection of large gene deletions in two unrelated HL-deficient patients.

Wang SP, Robert MF, Gibson KM, Wanders RJ, Mitchell GA. Wang SP, et al. Genomics. 1996 Apr 1;33(1):99-104. doi: 10.1006/geno.1996.0164. Genomics. 1996. PMID: 8617516

8

3-Hydroxy-3-methylglutaryl coenzyme A lyase (HL). Cloning of human and chicken liver HL cDNAs and characterization of a mutation causing human HL deficiency.

Mitchell GA, Robert MF, Hruz PW, Wang S, Fontaine G, Behnke CE, Mende-Mueller LM, Schappert K, Lee C, Gibson KM, Miziorko HM, et al. Mitchell GA, et al. J Biol Chem. 1993 Feb 25;268(6):4376-81. J Biol Chem. 1993. PMID: 8440722 Free article.

9

A child with acute pancreatitis and recurrent hypoglycemia due to 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.

Wilson WG, Cass MB, Søvik O, Gibson KM, Sweetman L. Wilson WG, et al. Eur J Pediatr. 1984 Sep;142(4):289-91. doi: 10.1007/BF00540255. Eur J Pediatr. 1984. PMID: 6489380

10

Genetic complementation analysis of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency in cultured fibroblasts.

Sovik O, Sweetman L, Gibson KM, Nyhan WL. Sovik O, et al. Am J Hum Genet. 1984 Jul;36(4):791-801. Am J Hum Genet. 1984. PMID: 6475954 Free PMC article.

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