Medium chain dicarboxylic and hydroxydicarboxylic aciduria in a case of neonatal adrenoleukodystrophy
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/BF01811409
Reference8 articles.
1. Bjorkhen, I., Blomstrand, S., Haga, P., Kase, B. F., Palonek, E., Pedersen, J. I., Strandvik, B. and Wikstrom, S. A. Urinary excretion of dicarboxylic acids from patients with the Zellweger syndrome. Importance of peroxisomes in β-oxidation of dicarboxylic acids.Biochim. Biophys. Acta 795 (1984) 15–19
2. Kelley, R. I., Datta, N. S., Dobyns, W. B., Hajra, A. K., Moser, A. B., Noetzel, M. I., Zackai, E. H. and Moser, H. W. Neonatal adrenoleukodystrophy: new cases, biochemical studies and differentiation from Zellweger and related peroxisomal polydystrophy syndromes.Am. J. Med. Genet. 23 (1986) 869–901
3. MacKenzie, S. L. and Tenaschuk, D. Quantitative formation ofN (O, S)-heptafluorobutyryl isobutyl amino acids for gas chromatographic analysis. II Acylation.J. Chromatogr. 173 (1979) 53–63
4. Moser, H. W., Moser, A. E., Kawamura, N., Murphy, J., Suzuki, K., Schaumburg, H., Kisnimoto, Y., and Milunsky, A. Adrenoleukodystrophy: elevated C26 fatty acid in cultured skin fibroblasts.Ann. Neurol. 7 (1980) 542–549
5. Moser, H. W., Moser, A. E., Frayer, K. K., Chen, W., Schulman, J. D., O'Neill, B. P. and Kishimoto, Y. Adrenoleukodystrophy: increased plasma content of saturated very long chain fatty acids.Neurology 31 (1981) 1241–1249
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1. Neonatal adrenoleukodystrophy/disorders of peroxisomal biogenesis;Atlas of Inherited Metabolic Diseases 3E;2011-12-30
2. Excretion of 3,6-epoxydicarboxylic acids in peroxisomal disorders;Clinica Chimica Acta;1993-12
3. Metabolic aspects of peroxisomal β-oxidation;Biochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism;1991-09
4. Urinary Dicarboxylic Acids in X-Linked Adrenoleukodystrophy;Pediatrics International;1990-06
5. The inborn errors of peroxisomal β-oxidation: A review;Journal of Inherited Metabolic Disease;1990-01
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