These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
6. 3-Hydroxy-3-methylglutaric aciduria in an Italian patient is caused by a new nonsense mutation in the HMGCL gene. Funghini S; Pasquini E; Cappellini M; Donati MA; Morrone A; Fonda C; Zammarchi E Mol Genet Metab; 2001 Jul; 73(3):268-75. PubMed ID: 11461194 [TBL] [Abstract][Full Text] [Related]
7. Mutations underlying 3-hydroxy-3-methylglutaryl CoA lyase deficiency in the Saudi population. Al-Sayed M; Imtiaz F; Alsmadi OA; Rashed MS; Meyer BF BMC Med Genet; 2006 Dec; 7():86. PubMed ID: 17173698 [TBL] [Abstract][Full Text] [Related]
12. [Late onset 3-HMG-CoA lyase deficiency: a rare but treatable disorder]. Pierron S; Giudicelli H; Moreigne M; Khalfi A; Touati G; Caruba C; Rolland MO; Acquaviva C Arch Pediatr; 2010 Jan; 17(1):10-3. PubMed ID: 19932602 [TBL] [Abstract][Full Text] [Related]
13. 3-HMG Coenzyme A Lyase Deficiency: Macrocephaly and Left Ventricular Noncompaction with a Novel Mutation. Köksal T; Gündüz M; Özaydın E; Azak E Indian J Pediatr; 2015 Jul; 82(7):645-8. PubMed ID: 25708061 [TBL] [Abstract][Full Text] [Related]
14. Application of multiplex ligation-dependent probe amplification, and identification of a heterozygous Alu-associated deletion and a uniparental disomy of chromosome 1 in two patients with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. Aoyama Y; Yamamoto T; Sakaguchi N; Ishige M; Tanaka T; Ichihara T; Ohara K; Kouzan H; Kinosada Y; Fukao T Int J Mol Med; 2015 Jun; 35(6):1554-60. PubMed ID: 25872961 [TBL] [Abstract][Full Text] [Related]
15. [3-hydroxy-3-methylglutaraciduria (case report of a female Turkish sisters with 3-hydroxy-3- methylglutaryl-Coenzyme A lyase deficiency]. Koling S; Kalhoff H; Schauerte P; Lehnert W; Diekmann L Klin Padiatr; 2000; 212(3):113-6. PubMed ID: 10916782 [TBL] [Abstract][Full Text] [Related]
16. GC/MS analysis of urine in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. Shinka T; Kuhara T; Inoue Y; Matsumoto M; Matsumoto I; Nakamura H; Irimichi H; Hasumi K; Endo A Acta Paediatr Jpn; 1992 Apr; 34(2):157-65. PubMed ID: 1377861 [TBL] [Abstract][Full Text] [Related]
17. 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 Genomics; 1996 Apr; 33(1):99-104. PubMed ID: 8617516 [TBL] [Abstract][Full Text] [Related]
18. 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 Hum Genet; 2000 Oct; 107(4):320-6. PubMed ID: 11129331 [TBL] [Abstract][Full Text] [Related]
19. A neonatal case of 3-hydroxy-3-methylglutaric-coenzyme A lyase deficiency. Santarelli F; Cassanello M; Enea A; Poma F; D'Onofrio V; Guala G; Garrone G; Puccinelli P; Caruso U; Porta F; Spada M Ital J Pediatr; 2013 May; 39():33. PubMed ID: 23705938 [TBL] [Abstract][Full Text] [Related]
20. 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 Am J Hum Genet; 1998 Feb; 62(2):295-300. PubMed ID: 9463337 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]