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Items: 1 to 20 of 134

1.

[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. doi: 10.1016/j.arcped.2009.09.022. Epub 2009 Nov 22. French.

PMID:
19932602
2.

[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. Spanish.

PMID:
9658458
3.

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.

PMID:
16601870
4.

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.

PMID:
15164951
5.

[3-Hydroxy-3-methyl-glutaryl-CoA-lyase deficiency as coma etiology in the neonatal period: case report].

Casella EB, Martins FR, Miura IK, Vieira MA, Porta G.

Arq Neuropsiquiatr. 1998 Sep;56(3A):472-5. Portuguese.

PMID:
9754431
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.

PMID:
11461194
7.

3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: review of 18 reported patients.

Gibson KM, Breuer J, Nyhan WL.

Eur J Pediatr. 1988 Dec;148(3):180-6. Review.

PMID:
3063529
8.

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.

9.

[3-hydroxy-3-methylglutaraturia. Clinical aspects, follow-up and therapy in a young child].

Plöchl E, Bachmann C, Colombo JP, Gibson KM.

Klin Padiatr. 1990 Mar-Apr;202(2):76-80. German.

PMID:
1691326
10.

Molecular analysis of Taiwanese patients with 3-hydroxy-3-methylglutaryl CoA lyase deficiency.

Lin WD, Wang CH, Lai CC, Tsai Y, Wu JY, Chen CP, Tsai FJ.

Clin Chim Acta. 2009 Mar;401(1-2):33-6. doi: 10.1016/j.cca.2008.11.004. Epub 2008 Nov 12.

PMID:
19036343
11.

3-Hydroxy-3-methylglutaryl-coenzyme a lyase deficiency: a review.

Wysocki SJ, Hähnel R.

J Inherit Metab Dis. 1986;9(3):225-33.

PMID:
3099065
12.

The E37X is a common HMGCL mutation in Portuguese patients with 3-hydroxy-3-methylglutaric CoA lyase deficiency.

Cardoso ML, Rodrigues MR, Leão E, Martins E, Diogo L, Rodrigues E, Garcia P, Rolland MO, Vilarinho L.

Mol Genet Metab. 2004 Aug;82(4):334-8.

PMID:
15308132
13.

[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 May-Jun;212(3):113-6. Review. German.

PMID:
10916782
14.

3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: initial presentation in a young adult.

Reimão S, Morgado C, Almeida IT, Silva M, Corte Real H, Campos J.

J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S49-52. doi: 10.1007/s10545-009-1048-5. Epub 2009 Feb 24.

PMID:
19242819
15.

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 24;39:33. doi: 10.1186/1824-7288-39-33.

16.

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. doi: 10.1007/s12098-015-1722-6. Epub 2015 Feb 25.

PMID:
25708061
17.

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. doi: 10.1002/humu.20966.

PMID:
19177531
19.

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.

20.

Prenatal diagnosis of 3-hydroxy-3-methylglutaric aciduria by GC-MS and enzymology on cultured amniocytes and chorionic villi.

Chalmers RA, Tracey BM, Mistry J, Stacey TE, McFadyen IR.

J Inherit Metab Dis. 1989;12(3):286-92.

PMID:
2482386

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