Peripheral neuropathy in a patient with d-2-hydroxyglutaric aciduria
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/s10545-009-0933-2
Reference15 articles.
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3. Chalmers RA, Lawson AM, Watts RWE, et al (1980) d-2-hydroxyglutaric aciduria: case report and biochemical studies. J Inherit Metab Dis 3: 11–15. doi: 10.1007/BF02312516 .
4. Honey EM, van Rensburg M, Knoll DP, Mienie LJ, van de Werke I, Beighton P (2003) Spondyloenchondromatosis with d-2-hydroxyglutaric aciduria: a report of a second patient with this unusual combination. Clin Dysmorphol 12: 95–99. doi: 10.1097/00019605-200304000-00004 .
5. Korman SH, Salomons GS, Gutman A, Brooks R, Jakobs C (2004) d-2-hydroxyglutaric aciduria and glutaric aciduria type 1 in siblings: coincidence or linked disorders? Neuropediatrics 35: 151–156. doi: 10.1055/s-2004-817905 .
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