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3. Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I): review and report of thirty novel mutations. Goodman SI; Stein DE; Schlesinger S; Christensen E; Schwartz M; Greenberg CR; Elpeleg ON Hum Mutat; 1998; 12(3):141-4. PubMed ID: 9711871 [TBL] [Abstract][Full Text] [Related]
4. Glutaric aciduria type 1 and neonatal screening: time to proceed--with caution. Superti-Furga A Eur J Pediatr; 2003 Dec; 162 Suppl 1():S17-20. PubMed ID: 14579152 [TBL] [Abstract][Full Text] [Related]
5. The 3rd International Workshop on glutaryl-CoA delhydrogenase deficiency. Hoffmann GF; Kölker S J Inherit Metab Dis; 2004; 27(6):800. PubMed ID: 15505383 [No Abstract] [Full Text] [Related]
6. Animal models for glutaryl-CoA dehydrogenase deficiency. Koeller DM; Sauer S; Wajner M; de Mello CF; Goodman SI; Woontner M; Mühlhausen C; Okun JG; Kölker S J Inherit Metab Dis; 2004; 27(6):813-8. PubMed ID: 15505386 [TBL] [Abstract][Full Text] [Related]
7. Neuroradiological findings in glutaric aciduria type I (glutaryl-CoA dehydrogenase deficiency). Neumaier-Probst E; Harting I; Seitz A; Ding C; Kolker S J Inherit Metab Dis; 2004; 27(6):869-76. PubMed ID: 15505394 [TBL] [Abstract][Full Text] [Related]
8. Antenatal diagnosis of glutaric acidemia. Goodman SI; Gallegos DA; Pullin CJ; Halpern B; Truscott RJ; Wise G; Wilcken B; Ryan ED; Whelen DT Am J Hum Genet; 1980 Sep; 32(5):695-9. PubMed ID: 6893520 [TBL] [Abstract][Full Text] [Related]
9. Neuropathological, biochemical and molecular findings in a glutaric acidemia type 1 cohort. Funk CB; Prasad AN; Frosk P; Sauer S; Kölker S; Greenberg CR; Del Bigio MR Brain; 2005 Apr; 128(Pt 4):711-22. PubMed ID: 15689364 [TBL] [Abstract][Full Text] [Related]
10. Pathomechanisms of neurodegeneration in glutaryl-CoA dehydrogenase deficiency. Kölker S; Koeller DM; Okun JG; Hoffmann GF Ann Neurol; 2004 Jan; 55(1):7-12. PubMed ID: 14705106 [TBL] [Abstract][Full Text] [Related]
11. Glutaric aciduria type I with high residual glutaryl-CoA dehydrogenase activity. Pineda M; Ribes A; Busquets C; Vilaseca MA; Aracil A; Christensen E Dev Med Child Neurol; 1998 Dec; 40(12):840-2. PubMed ID: 9881681 [TBL] [Abstract][Full Text] [Related]
12. Vascular dysfunction as an additional pathomechanism in glutaric aciduria type I. Mühlhausen C; Ergün S; Strauss KA; Koeller DM; Crnic L; Woontner M; Goodman SI; Ullrich K; Braulke T J Inherit Metab Dis; 2004; 27(6):829-34. PubMed ID: 15505389 [TBL] [Abstract][Full Text] [Related]
16. Profound neurological presentation resulting from homozygosity for a mild glutaryl-CoA dehydrogenase mutation with a minimal biochemical phenotype. Treacy EP; Lee-Chong A; Roche G; Lynch B; Ryan S; Goodman S J Inherit Metab Dis; 2003; 26(1):72-4. PubMed ID: 12872844 [No Abstract] [Full Text] [Related]
17. Novel mutations of the glutaryl-CoA dehydrogenase gene in two Japanese patients with glutaric aciduria type I. Ikeda H; Kimura T; Ikegami T; Kato M; Matsunaga A; Yokoyama S; Yamaguchi S; Ohura T; Hayasaka K Am J Med Genet; 1998 Dec; 80(4):327-9. PubMed ID: 9856558 [TBL] [Abstract][Full Text] [Related]
18. Feasibility of molecular prenatal diagnosis of glutaric aciduria type I in chorionic villi. Busquets C; Coll MJ; Christensen E; Campistol J; Clusellas N; Vilaseca MA; Ribes A J Inherit Metab Dis; 1998 Jun; 21(3):243-6. PubMed ID: 9686367 [No Abstract] [Full Text] [Related]
19. The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I. Schwartz M; Christensen E; Superti-Furga A; Brandt NJ Hum Genet; 1998 Apr; 102(4):452-8. PubMed ID: 9600243 [TBL] [Abstract][Full Text] [Related]
20. Sensitivity and specificity of free and total glutaric acid and 3-hydroxyglutaric acid measurements by stable-isotope dilution assays for the diagnosis of glutaric aciduria type I. Baric I; Wagner L; Feyh P; Liesert M; Buckel W; Hoffmann GF J Inherit Metab Dis; 1999 Dec; 22(8):867-81. PubMed ID: 10604139 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]