Title: Macrocephaly: an important indication for organic acid analysis
Abstract: Journal of Inherited Metabolic DiseaseVolume 14, Issue 3 p. 329-332 Short Communication Macrocephaly: an important indication for organic acid analysis G. F. Hoffmann, G. F. Hoffmann Department of Paediatrics, University of Heidelberg, Im Neuenheimer Feld 150, Heidelberg, D-6900 Federal Republic of GermanySearch for more papers by this authorF. K. Trefz, F. K. Trefz Department of Paediatrics, University of Heidelberg, Im Neuenheimer Feld 150, Heidelberg, D-6900 Federal Republic of GermanySearch for more papers by this authorP. G. Barth, P. G. Barth Department of Paediatrics, University of Amsterdam, The NetherlandsSearch for more papers by this authorH. J. Böhles, H. J. Böhles Department of Paediatrics, University of Frankfurt, FRGSearch for more papers by this authorW. Lehnert, W. Lehnert Department of Paediatrics, University of Freiburg, FRGSearch for more papers by this authorE. Christensen, E. Christensen Department of Clinical Genetics, University of Copenhagen, DenmarkSearch for more papers by this authorJ. Valk, J. Valk Department of Radiology, Free University of Amsterdam, The NetherlandsSearch for more papers by this authorD. Rating, D. Rating Department of Paediatrics, University of Heidelberg, Im Neuenheimer Feld 150, Heidelberg, D-6900 Federal Republic of GermanySearch for more papers by this authorH. J. Bremer, H. J. Bremer Department of Paediatrics, University of Heidelberg, Im Neuenheimer Feld 150, Heidelberg, D-6900 Federal Republic of GermanySearch for more papers by this author G. F. Hoffmann, G. F. Hoffmann Department of Paediatrics, University of Heidelberg, Im Neuenheimer Feld 150, Heidelberg, D-6900 Federal Republic of GermanySearch for more papers by this authorF. K. Trefz, F. K. Trefz Department of Paediatrics, University of Heidelberg, Im Neuenheimer Feld 150, Heidelberg, D-6900 Federal Republic of GermanySearch for more papers by this authorP. G. Barth, P. G. Barth Department of Paediatrics, University of Amsterdam, The NetherlandsSearch for more papers by this authorH. J. Böhles, H. J. Böhles Department of Paediatrics, University of Frankfurt, FRGSearch for more papers by this authorW. Lehnert, W. Lehnert Department of Paediatrics, University of Freiburg, FRGSearch for more papers by this authorE. Christensen, E. Christensen Department of Clinical Genetics, University of Copenhagen, DenmarkSearch for more papers by this authorJ. Valk, J. Valk Department of Radiology, Free University of Amsterdam, The NetherlandsSearch for more papers by this authorD. Rating, D. Rating Department of Paediatrics, University of Heidelberg, Im Neuenheimer Feld 150, Heidelberg, D-6900 Federal Republic of GermanySearch for more papers by this authorH. J. Bremer, H. J. Bremer Department of Paediatrics, University of Heidelberg, Im Neuenheimer Feld 150, Heidelberg, D-6900 Federal Republic of GermanySearch for more papers by this author First published: 01 May 1991 https://doi.org/10.1007/BF01811695Citations: 21AboutPDF 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 1Amir N., Elpeleg O. N., Shalev R. S., Christensen E. (1989) Glutaric aciduria type I: enzymatic and neuroradiologic investigations of two kindreds. J. Pediatr., 114: 983–989. 2Bergman I., Finegold D., Gartner J. C., Zitelli B. J., Claassen D., Scarano J., Roe C. R., Stanley C., Goodman S. I. (1989) Acute profound dystonia in infants with glutaric acidemia. Pediatrics, 83: 228–234. 3Hoffmann, G., Böhles, H. J., Frosch, M., Hanefeld, F., Hunneman, D. H., Lawrenz-Wolf, B., Lehnert, W., Trefz, F. K., Ullrich, K., Wendel, U. (1989a) Glutaric aciduria type I: Clinical presentation, therapeutic management and neurodevelopmental outcome in six new patients. In: Proceedings of the 27th Annual Symposium of the SSIEM, Munich, Abstract P100. 4Hoffmann G., Aramaki S., Blum-Hoffmann E., Nyhan W. L., Sweetman L. (1989) Quantitative analysis for organic acids in biological samples: batch isolation followed by gas chromatographic-mass spectrometric analysis. Clin. Chem., 35: 587–595. 5Holme E., Kyllerman M., Lindstedt S. (1989) Early prenatal diagnosis in two pregnancies at risk for glutaryl-CoA dehydrogenase deficiency. J. Inher. Metab. Dis., 12 (Suppl. 2): 280–282. 6Kyllerman M., Steen G. (1980) Glutaric aciduria. A 'common' metabolic disorder?. Arch. Franc. Pédiatr., 37: 279. Citing Literature Volume14, Issue3May 1991Pages 329-332 ReferencesRelatedInformation
Publication Year: 1991
Publication Date: 1991-05-01
Language: en
Type: article
Indexed In: ['crossref', 'pubmed']
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Cited By Count: 29
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