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6. Cerebral 1H MR spectroscopy revealing white matter NAA decreases in glutaric aciduria type I. Sijens PE; Smit GP; Meiners LC; Oudkerk M; van Spronsen FJ Mol Genet Metab; 2006 Jul; 88(3):285-9. PubMed ID: 16488172 [TBL] [Abstract][Full Text] [Related]
7. Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport. Almeida LS; Verhoeven NM; Roos B; Valongo C; Cardoso ML; Vilarinho L; Salomons GS; Jakobs C Mol Genet Metab; 2004 Jul; 82(3):214-9. PubMed ID: 15234334 [TBL] [Abstract][Full Text] [Related]
8. An investigation of argininosuccinic acid anhydrides in argininosuccinic acid lyase deficiency by 1H-NMR spectroscopy. Burns SP; Iles RA Clin Chim Acta; 1993 Nov; 221(1-2):1-13. PubMed ID: 8149628 [TBL] [Abstract][Full Text] [Related]
9. Lethal neonatal argininosuccinate lyase deficiency in four children from one sibship. van der Heiden C; Gerards LJ; van Biervliet JP; Desplanque J; de Bree PK; van Sprang FJ; Wadman SK Helv Paediatr Acta; 1976 Dec; 31(4-5):407-17. PubMed ID: 1017984 [No Abstract] [Full Text] [Related]
10. Biochemical and clinical characteristics of creatine deficiency syndromes. Sykut-Cegielska J; Gradowska W; Mercimek-Mahmutoglu S; Stöckler-Ipsiroglu S Acta Biochim Pol; 2004; 51(4):875-82. PubMed ID: 15625559 [TBL] [Abstract][Full Text] [Related]
11. Proton MR spectroscopy of pediatric brain metabolic disorders. Wang ZJ; Zimmerman RA Neuroimaging Clin N Am; 1998 Nov; 8(4):781-807. PubMed ID: 9769342 [TBL] [Abstract][Full Text] [Related]
12. Usefulness of magnetic resonance spectroscopy in urea cycle disorders. Roze E; Azuar C; Menuel C; Häberle J; Guillevin R Pediatr Neurol; 2007 Sep; 37(3):222-5. PubMed ID: 17765814 [TBL] [Abstract][Full Text] [Related]
13. Guanidinoacetate methyltransferase deficiency: a newly recognized inborn error of creatine biosynthesis. Stöckler S; Hanefeld F Wien Klin Wochenschr; 1997 Feb; 109(3):86-8. PubMed ID: 9060147 [TBL] [Abstract][Full Text] [Related]
18. [Argininosuccinic aciduria. A new case revealed by psychiatric disorders]. Odent S; Roussey M; Journel H; Betremieux P; David V; Le Marec B J Genet Hum; 1989 Jan; 37(1):39-42. PubMed ID: 2715782 [TBL] [Abstract][Full Text] [Related]
19. 1H chemical shift imaging of the brain in guanidino methyltransferase deficiency, a creatine deficiency syndrome; guanidinoacetate accumulation in the gray matter. Sijens PE; Verbruggen KT; Meiners LC; Soorani-Lunsing RJ; Rake JP; Oudkerk M Eur Radiol; 2005 Sep; 15(9):1923-6. PubMed ID: 15856249 [TBL] [Abstract][Full Text] [Related]
20. Creatine metabolism in combined methylmalonic aciduria and homocystinuria. Bodamer OA; Sahoo T; Beaudet AL; O'Brien WE; Bottiglieri T; Stöckler-Ipsiroglu S; Wagner C; Scaglia F Ann Neurol; 2005 Apr; 57(4):557-60. PubMed ID: 15786446 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]