170 related articles for article (PubMed ID: 15164951)
1. Molecular basis of 3-hydroxy-3-methylglutaric aciduria.
Pie J; Casals N; Puisac B; Hegardt FG
J Physiol Biochem; 2003 Dec; 59(4):311-21. PubMed ID: 15164951
[TBL] [Abstract][Full Text] [Related]
2. A nonsense mutation in the exon 2 of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene producing three mature mRNAs is the main cause of 3-hydroxy-3-methylglutaric aciduria in European Mediterranean patients.
Casale CH; Casals N; Pié J; Zapater N; Pérez-Cerdá C; Merinero B; Martínez-Pardo M; García-Peñas JJ; García-Gonzalez JM; Lama R; Poll-The BT; Smeitink JA; Wanders RJ; Ugarte M; Hegardt FG
Arch Biochem Biophys; 1998 Jan; 349(1):129-37. PubMed ID: 9439591
[TBL] [Abstract][Full Text] [Related]
3. A two-base deletion in exon 6 of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene producing the skipping of exons 5 and 6 determines 3-hydroxy-3-methylglutaric aciduria.
Casals N; Pié J; Casale CH; Zapater N; Ribes A; Castro-Gago M; Rodriguez-Segade S; Wanders RJ; Hegardt FG
J Lipid Res; 1997 Nov; 38(11):2303-13. PubMed ID: 9392428
[TBL] [Abstract][Full Text] [Related]
4. [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]
5. Molecular genetics of HMG-CoA lyase deficiency.
Pié J; López-Viñas E; Puisac B; Menao S; Pié A; Casale C; Ramos FJ; Hegardt FG; Gómez-Puertas P; Casals N
Mol Genet Metab; 2007 Nov; 92(3):198-209. PubMed ID: 17692550
[TBL] [Abstract][Full Text] [Related]
6. Two missense point mutations in different alleles in the 3-hydroxy-3-methylglutaryl coenzyme A lyase gene produce 3-hydroxy-3-methylglutaric aciduria in a French patient.
Zapater N; Pié J; Lloberas J; Rolland MO; Leroux B; Vidailhet M; Divry P; Hegardt FG; Casals N
Arch Biochem Biophys; 1998 Oct; 358(2):197-203. PubMed ID: 9784232
[TBL] [Abstract][Full Text] [Related]
7. A single-residue mutation, G203E, causes 3-hydroxy-3-methylglutaric aciduria by occluding the substrate channel in the 3D structural model of HMG-CoA lyase.
Mir C; Lopez-Viñas E; Aledo R; Puisac B; Rizzo C; Dionisi-Vici C; Deodato F; Pié J; Gomez-Puertas P; Hegardt FG; Casals N
J Inherit Metab Dis; 2006 Feb; 29(1):64-70. PubMed ID: 16601870
[TBL] [Abstract][Full Text] [Related]
8. 3-Hydroxy-3-methylglutaric aciduria.
Greene CL; Cann HM; Robinson BH; Gibson KM; Sweetman L; Holm J; Nyhan WL
J Neurogenet; 1984 Apr; 1(2):165-73. PubMed ID: 6085636
[TBL] [Abstract][Full Text] [Related]
9. [3-hydroxy-3-methylglutaric aciduria and recurrent Reye-like syndrome].
Eirís J; Ribes A; Fernández-Prieto R; Rodríguez-García J; Rodríguez-Segade S; Castro-Gago M
Rev Neurol; 1998 Jun; 26(154):911-4. PubMed ID: 9658458
[TBL] [Abstract][Full Text] [Related]
10. Ten novel HMGCL mutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria.
Menao S; López-Viñas E; Mir C; Puisac B; Gratacós E; Arnedo M; Carrasco P; Moreno S; Ramos M; Gil MC; Pié A; Ribes A; Pérez-Cerda C; Ugarte M; Clayton PT; Korman SH; Serra D; Asins G; Ramos FJ; Gómez-Puertas P; Hegardt FG; Casals N; Pié J
Hum Mutat; 2009 Mar; 30(3):E520-9. PubMed ID: 19177531
[TBL] [Abstract][Full Text] [Related]
11. [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]
12. 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]
13. 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]
14. 3-hydroxy-3-methylglutaric aciduria: a new assay of 3-hydroxy-3-methylglutaryl-coa lyase using high performance liquid chromatography.
Gibson KM; Sweetman L; Nyhan WL; Page TM; Greene C; Cann HM
Clin Chim Acta; 1982 Dec; 126(2):171-81. PubMed ID: 6185253
[TBL] [Abstract][Full Text] [Related]
15. 3-Hydroxy-3-methylglutaric aciduria: response to carnitine therapy and fat and leucine restriction.
Dasouki M; Buchanan D; Mercer N; Gibson KM; Thoene J
J Inherit Metab Dis; 1987; 10(2):142-6. PubMed ID: 2443756
[TBL] [Abstract][Full Text] [Related]
16. The contribution of protein catabolism to metabolic decompensation in 3-hydroxy-3-methylglutaric aciduria.
Thompson GN; Chalmers RA; Halliday D
Eur J Pediatr; 1990 Feb; 149(5):346-50. PubMed ID: 1690129
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. A nonsense mutation in the 3-hydroxy-3-methylglutaryl-CoA lyase gene produces exon skipping in two patients of different origin with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.
Pié J; Casals N; Casale CH; Buesa C; Mascaró C; Barceló A; Rolland MO; Zabot T; Haro D; Eyskens F; Divry P; Hegardt FG
Biochem J; 1997 Apr; 323 ( Pt 2)(Pt 2):329-35. PubMed ID: 9163320
[TBL] [Abstract][Full Text] [Related]
19. 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
J Biol Chem; 1993 Feb; 268(6):4376-81. PubMed ID: 8440722
[TBL] [Abstract][Full Text] [Related]
20. Differential HMG-CoA lyase expression in human tissues provides clues about 3-hydroxy-3-methylglutaric aciduria.
Puisac B; Arnedo M; Casale CH; Ribate MP; Castiella T; Ramos FJ; Ribes A; Pérez-Cerdá C; Casals N; Hegardt FG; Pié J
J Inherit Metab Dis; 2010 Aug; 33(4):405-10. PubMed ID: 20532825
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
