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01-08-2011 | Letter to the Editors

Co-morbidity of Sanfilippo Syndrome type C and d-2-hydroxyglutaric aciduria

Authors: M. Ali Pervaiz, Marc C. Patterson, Eduard A. Struys, Gajja S. Salomons, Cornelis Jakobs, Devin Oglesbee, Salman Kirmani

Published in: Journal of Neurology | Issue 8/2011

Excerpt

Dear Sirs, …

Struys EA, Jansen EE, Verhoeven NM, Jacob C (2004) Measurement of urinary d- and l-2-hydroxyglutarate enantiomers by stable-isotope-dilution liquid chromatography-tandem mass spectrometry after derivatization with diacetyl-l-tartaric anhydride. Clin Chem 50(8):1391–1395PubMedCrossRef

Ruijter GJ, Valstar MJ, Van de Kamp JM et al (2008) Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands. Mol Genet Metab 93:104–111PubMedCrossRef

Barone R, Nigro F, Triulzi F et al (1999) Clinical and neuroradiological follow-up in mucopolysaccharidosis type III (Sanfilippo syndrome). Neuropediatrics 30:270–274PubMedCrossRef

Fan X, Zhang H, Zhang S et al (2006) Identification of the gene encoding the enzyme deficient in mucopolysaccharidosis IIIC (Sanfilippo disease type C). Am J Hum Genet 79:738–744PubMedCrossRef

Misra VK, Struys EA, O’Brien W et al (2005) Phenotypic heterogeneity in the presentation of d-2-hydroxyglutaric aciduria in monozygotic twins. Mol Genet Metab 86:200–205PubMedCrossRef

Kranendijk M, Struys EA, van Schaftingen E et al (2010) IDH2 mutations in patients with d-2-hydroxyglutaric aciduria. Science 330:336PubMedCrossRef

Struys EA (2006) d-2-hydroxyglutaric aciduria: unraveling the biochemical pathway and the genetic defect. J Inherit Metab Dis 29:21–29PubMedCrossRef

Title: Co-morbidity of Sanfilippo Syndrome type C and d-2-hydroxyglutaric aciduria
Authors: M. Ali Pervaiz
Marc C. Patterson
Eduard A. Struys
Gajja S. Salomons
Cornelis Jakobs
Devin Oglesbee
Salman Kirmani
Publication date: 01-08-2011
Publisher: Springer-Verlag
Published in: Journal of Neurology / Issue 8/2011
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI: https://doi.org/10.1007/s00415-011-5977-1

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Co-morbidity of Sanfilippo Syndrome type C and d-2-hydroxyglutaric aciduria

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