179 related articles for article (PubMed ID: 11825066)
1. Outcome of the first 3-years of a DNA-based neonatal screening program for glutaric acidemia type 1 in Manitoba and northwestern Ontario, Canada.
Greenberg CR; Prasad AN; Dilling LA; Thompson JR; Haworth JC; Martin B; Wood-Steiman P; Seargeant LE; Seifert B; Booth FA; Prasad C
Mol Genet Metab; 2002 Jan; 75(1):70-8. PubMed ID: 11825066
[TBL] [Abstract][Full Text] [Related]
2. Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency.
Hoffmann GF; Athanassopoulos S; Burlina AB; Duran M; de Klerk JB; Lehnert W; Leonard JV; Monavari AA; Müller E; Muntau AC; Naughten ER; Plecko-Starting B; Superti-Furga A; Zschocke J; Christensen E
Neuropediatrics; 1996 Jun; 27(3):115-23. PubMed ID: 8837070
[TBL] [Abstract][Full Text] [Related]
3. Recurrent and novel mutations of GCDH gene in Chinese glutaric acidemia type I families.
Tang NL; Hui J; Law LK; Lam YY; Chan KY; Yeung WL; Chan AY; Cheung KL; Fok TF
Hum Mutat; 2000 Nov; 16(5):446. PubMed ID: 11058907
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Glutaryl-CoA dehydrogenase deficiency presenting as 3-hydroxyglutaric aciduria.
Nyhan WL; Zschocke J; Hoffmann G; Stein DE; Bao L; Goodman S
Mol Genet Metab; 1999 Mar; 66(3):199-204. PubMed ID: 10066389
[TBL] [Abstract][Full Text] [Related]
6. D-2-hydroxyglutaric aciduria and glutaric aciduria type 1 in siblings: coincidence, or linked disorders?
Korman SH; Salomons GS; Gutman A; Brooks R; Jakobs C
Neuropediatrics; 2004 Jun; 35(3):151-6. PubMed ID: 15248096
[TBL] [Abstract][Full Text] [Related]
7. Acute profound dystonia in infants with glutaric acidemia.
Bergman I; Finegold D; Gartner JC; Zitelli BJ; Claassen D; Scarano J; Roe CR; Stanley C; Goodman SI
Pediatrics; 1989 Feb; 83(2):228-34. PubMed ID: 2643800
[TBL] [Abstract][Full Text] [Related]
8. [Glutaric acidemia/glutaric aciduria I as differential chorea minor diagnosis].
Voll R; Hoffmann GF; Lipinski CG; Trefz FK; Weisser J
Klin Padiatr; 1993; 205(2):124-6. PubMed ID: 8487480
[TBL] [Abstract][Full Text] [Related]
9. Dystonia and dyskinesia in glutaric aciduria type I: clinical heterogeneity and therapeutic considerations.
Kyllerman M; Skjeldal OH; Lundberg M; Holme I; Jellum E; von Döbeln U; Fossen A; Carlsson G
Mov Disord; 1994 Jan; 9(1):22-30. PubMed ID: 8139602
[TBL] [Abstract][Full Text] [Related]
10. Acute encephalopathy despite early therapy in a patient with homozygosity for E365K in the glutaryl-coenzyme A dehydrogenase gene.
Kölker S; Ramaekers VT; Zschocke J; Hoffmann GF
J Pediatr; 2001 Feb; 138(2):277-9. PubMed ID: 11174631
[TBL] [Abstract][Full Text] [Related]
11. Glutaric aciduria type I: a common cause of episodic encephalopathy and spastic paralysis in the Amish of Lancaster County, Pennsylvania.
Morton DH; Bennett MJ; Seargeant LE; Nichter CA; Kelley RI
Am J Med Genet; 1991 Oct; 41(1):89-95. PubMed ID: 1951469
[TBL] [Abstract][Full Text] [Related]
12. Prenatal molecular diagnosis of glutaric aciduria type I by direct mutation analysis.
Busquets C; Coll MJ; Merinero B; Ugarte M; Ruiz MA; Martinez Bermejo A; Ribes A
Prenat Diagn; 2000 Sep; 20(9):761-4. PubMed ID: 11015709
[TBL] [Abstract][Full Text] [Related]
13. Novel mutation and prenatal sonographic findings of glutaric aciduria (type I) in two Taiwanese families.
Lin SK; Hsu SG; Ho ES; Tsai CR; Hseih YT; Lo FC; Lai HY; Chen MH
Prenat Diagn; 2002 Aug; 22(8):725-9. PubMed ID: 12210585
[TBL] [Abstract][Full Text] [Related]
14. Glutaryl-CoA dehydrogenase deficiency: region-specific analysis of organic acids and acylcarnitines in post mortem brain predicts vulnerability of the putamen.
Kölker S; Hoffmann GF; Schor DS; Feyh P; Wagner L; Jeffrey I; Pourfarzam M; Okun JG; Zschocke J; Baric I; Bain MD; Jakobs C; Chalmers RA
Neuropediatrics; 2003 Jun; 34(5):253-60. PubMed ID: 14598231
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Long-term follow-up, neurological outcome and survival rate in 28 Nordic patients with glutaric aciduria type 1.
Kyllerman M; Skjeldal O; Christensen E; Hagberg G; Holme E; Lönnquist T; Skov L; Rotwelt T; von Döbeln U
Eur J Paediatr Neurol; 2004; 8(3):121-9. PubMed ID: 15120683
[TBL] [Abstract][Full Text] [Related]
17. Evidence of a single origin for the most frequent mutation (R402W) causing glutaryl-CoA dehydrogenase deficiency: identification of 3 novel polymorphisms and haplotype definition.
Busquets C; Coll MJ; Ribes A
Hum Mutat; 2000 Feb; 15(2):207. PubMed ID: 10649503
[TBL] [Abstract][Full Text] [Related]
18. Glutaric acidemia type 1 in patients of Lumbee heritage from North Carolina.
Basinger AA; Booker JK; Frazier DM; Koeberl DD; Sullivan JA; Muenzer J
Mol Genet Metab; 2006 May; 88(1):90-2. PubMed ID: 16466958
[TBL] [Abstract][Full Text] [Related]
19. Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct.
Busquets C; Merinero B; Christensen E; Gelpí JL; Campistol J; Pineda M; Fernández-Alvarez E; Prats JM; Sans A; Arteaga R; Martí M; Campos J; Martínez-Pardo M; Martínez-Bermejo A; Ruiz-Falcó ML; Vaquerizo J; Orozco M; Ugarte M; Coll MJ; Ribes A
Pediatr Res; 2000 Sep; 48(3):315-22. PubMed ID: 10960496
[TBL] [Abstract][Full Text] [Related]
20. Glutaryl-coenzyme A dehydrogenase deficiency: a distinct encephalopathy.
Hoffmann GF; Trefz FK; Barth PG; Böhles HJ; Biggemann B; Bremer HJ; Christensen E; Frosch M; Hanefeld F; Hunneman DH
Pediatrics; 1991 Dec; 88(6):1194-203. PubMed ID: 1956737
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
