Significance of bound glutarate in the diagnosis of glutaric aciduria type I
1992; Springer Science+Business Media; Volume: 15; Issue: 3 Linguagem: Inglês
10.1007/bf02435978
ISSN1573-2665
AutoresAntònia Ribes, E. Riudor, P. Briones, E. Christensen, Josep M. Campistol, David S. Millington,
Tópico(s)RNA modifications and cancer
ResumoJournal of Inherited Metabolic DiseaseVolume 15, Issue 3 p. 367-370 Short Communication Significance of bound glutarate in the diagnosis of glutaric aciduria type I A. Ribes, A. Ribes Institut de Bioquímica Clínica, Diputació de Barcelona, Apartat de Correus 137, Cerdanyola, Barcelona, 08290 SpainSearch for more papers by this authorE. Riudor, E. Riudor Laboratori de Metabolopatíes, Hospital Materno-Infantil, Ciutat Sanitaria Vall d'Hebron, Barcelona, SpainSearch for more papers by this authorP. Briones, P. Briones Institut de Bioquímica Clínica, Diputació de Barcelona, Apartat de Correus 137, Cerdanyola, Barcelona, 08290 SpainSearch for more papers by this authorE. Christensen, E. Christensen Section of Clinical Genetics, Metabolic Laboratory, Rigshospitalet, Copenhagen, DenmarkSearch for more papers by this authorJ. Campistol, J. Campistol Servei de Neuropediatria, Hospital de Sant Joan de Deu, Barcelona, SpainSearch for more papers by this authorD. S. Millington, D. S. Millington Department of Pediatrics, Division of Genetics and Metabolism, Duke University Hospital, Durham, North Carolina, USASearch for more papers by this author A. Ribes, A. Ribes Institut de Bioquímica Clínica, Diputació de Barcelona, Apartat de Correus 137, Cerdanyola, Barcelona, 08290 SpainSearch for more papers by this authorE. Riudor, E. Riudor Laboratori de Metabolopatíes, Hospital Materno-Infantil, Ciutat Sanitaria Vall d'Hebron, Barcelona, SpainSearch for more papers by this authorP. Briones, P. Briones Institut de Bioquímica Clínica, Diputació de Barcelona, Apartat de Correus 137, Cerdanyola, Barcelona, 08290 SpainSearch for more papers by this authorE. Christensen, E. Christensen Section of Clinical Genetics, Metabolic Laboratory, Rigshospitalet, Copenhagen, DenmarkSearch for more papers by this authorJ. Campistol, J. Campistol Servei de Neuropediatria, Hospital de Sant Joan de Deu, Barcelona, SpainSearch for more papers by this authorD. S. Millington, D. S. Millington Department of Pediatrics, Division of Genetics and Metabolism, Duke University Hospital, Durham, North Carolina, USASearch for more papers by this author First published: 01 May 1992 https://doi.org/10.1007/BF02435978Citations: 23AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat References 1Barth PG, Scholte HR, Berden JA et al (1983) An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leukocytes. J Neurol Sci, 62: 327–355, . 2Bergman I, Finegold D, Gartner J et al (1989) Acute profound dystonia infants with glutaric acidemia. Pediatrics, 83: 228–234. 3Christensen E (1983) Improved assay of glutaryl-CoA dehydrogenase in cultured cells and liver application to glutaric aciduria type I. Clin Chim Acta, 129: 91–97, . 4, Dorland L, Duran M, Ketting D et al (1990) Intermittent glutaric aciduria in glutaryl-CoA dehydrogenase deficiency. Abstracts of the 28th Symposium of the SSIEM (Birmingham, September 1990) 54.. 5Haworth JC, Both FA, Chudley AE et al (1991) Phenotypic variability in glutaric aciduria type I: Report of fourteen cases in five Canadian Indian kindreds. J Pediatr, 118: 52–58, . 6Hellström B (1982) Progressive dystonia and dyskinesia in childhood. Acta Paediatr Scand, 71: 177–181. 7Hoffmann GF, Trefz FK, Barth PG et al (1991) Macrocephaly: an important indication for organic acid analysis. J Inher Metab Dis, 14: 329–332, . 8Lipkin PH, Roe CR, Goodman SI, Batshaw ML (1988) A case of glutaric acidemia type I: Effect of riboflavin and carnitine. J Pediatr, 112: 62–65, . 9Tanaka K, West-Dull A, Hine DG, Lynn TB, Lowe T (1980) Gas chromatography method of analysis for urinary organic acids. Description of the procedure and its application to diagnosis of patients with organic acidurias. Clin Chem, 26: 1847–1853. Citing Literature Volume15, Issue3May 1992Pages 367-370 ReferencesRelatedInformation
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