191 related articles for article (PubMed ID: 2450702)
1. 3-Hydroxy-3-methylglutaryl-CoA lyase in human skin fibroblasts: study of its properties and deficient activity in 3-hydroxy-3-methylglutaric aciduria patients using a simple spectrophotometric method.
Wanders RJ; Schutgens RB; Zoeters PH
Clin Chim Acta; 1988 Jan; 171(1):95-101. PubMed ID: 2450702
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. 3-Hydroxy-3-methylglutaric aciduria: deficiency of 3-hydroxy-3-methylglutaryl coenzyme A lyase.
Wysocki SJ; Hähnel R
Clin Chim Acta; 1976 Sep; 71(2):349-51. PubMed ID: 963901
[TBL] [Abstract][Full Text] [Related]
5. First trimester prenatal diagnosis of 3-hydroxy-3-methylglutaric aciduria.
Chalmers RA; Mistry J; Penketh R; McFadyen IR
J Inherit Metab Dis; 1989; 12 Suppl 2():283-5. PubMed ID: 2480477
[No Abstract] [Full Text] [Related]
6. Prenatal diagnosis of 3-hydroxy-3-methylglutaric aciduria via enzyme activity measurements in chorionic villi, chorionic villous fibroblasts or amniocytes using a simple spectrophotometric method.
Wanders RJ; Schutgens RB; Zoeters BH
J Inherit Metab Dis; 1988; 11(4):430. PubMed ID: 2468820
[No Abstract] [Full Text] [Related]
7. 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]
8. [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]
9. 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. PubMed ID: 2482386
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Rapid diagnosis of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency via enzyme activity measurements in leukocytes or platelets using a simple spectrophotometric method.
Wanders RJ; Zoeters PH; Schutgens RB; de Klerk JB; Duran M; Wadman SK; van Sprang FJ; Hemmes AM; Voorbrood BS
Clin Chim Acta; 1990 Aug; 189(3):327-34. PubMed ID: 2225463
[TBL] [Abstract][Full Text] [Related]
12. [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]
13. Studies on a child suspected of having a dficiency in 3-hydroxy-3-methylglutaryl-Co A lyase.
Truscott RJ; Halpern B; Wysocki SJ; Hähnel R; Wilcken B
Clin Chim Acta; 1979 Jul; 95(1):11-16. PubMed ID: 509721
[TBL] [Abstract][Full Text] [Related]
14. 3-Hydroxy-3-methylglutaric aciduria: a possible pitfall in diagnosis.
Mills GA; Hill MA; Buchanan R; Corina DL; Walker V
Clin Chim Acta; 1991 Dec; 204(1-3):131-6. PubMed ID: 1726424
[No Abstract] [Full Text] [Related]
15. 3-Methylglutaconic and 3-methylglutaric aciduria in a patient with suspected 3-methylglutaconyl-CoA hydratase deficiency.
Lehnert W; Scharf J; Wendel U
Eur J Pediatr; 1985 Mar; 143(4):301-3. PubMed ID: 2580710
[TBL] [Abstract][Full Text] [Related]
16. 3-Methylglutaconyl-CoA hydratase, 3-methylcrotonyl-CoA carboxylase and 3-hydroxy-3-methylglutaryl-CoA lyase deficiencies: a coupled enzyme assay useful for their detection.
Narisawa K; Gibson KM; Sweetman L; Nyhan WL
Clin Chim Acta; 1989 Sep; 184(1):57-64. PubMed ID: 2480857
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. [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; 202(2):76-80. PubMed ID: 1691326
[TBL] [Abstract][Full Text] [Related]
19. Combined 3-methylglutaconic and 3-hydroxy-3-methylglutaric aciduria with endocardial fibroelastosis and dilatative cardiomyopathy in male and female siblings with partial deficiency of complex II/III in fibroblasts.
Ruesch S; Krähenbühl S; Kleinle S; Liechti-Gallati S; Schaffner T; Wermuth B; Weber J; Wiesmann UN
Enzyme Protein; 1996; 49(5-6):321-9. PubMed ID: 9252790
[TBL] [Abstract][Full Text] [Related]
20. 3-hydroxy-3-methylglutaric, 3-methylglutaconic and 3-methylglutaric acids can be non-specific indicators of metabolic disease.
Hammond J; Wilcken B
J Inherit Metab Dis; 1984; 7 Suppl 2():117-8. PubMed ID: 6207381
[No Abstract] [Full Text] [Related]
[Next] [New Search]