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Glutaric aciduria type I: pathomechanisms of neurodegeneration.
Ullrich K, Flott-Rahmel B, Schluff P, Musshoff U, Das A, Lücke T, Steinfeld R, Christensen E, Jakobs C, Ludolph A, Neu A, Röper R. Ullrich K, et al. Among authors: christensen e. J Inherit Metab Dis. 1999 Jun;22(4):392-403. doi: 10.1023/a:1005595921323. J Inherit Metab Dis. 1999. PMID: 10407776
Development and implementation of a novel assay for L-2-hydroxyglutarate dehydrogenase (L-2-HGDH) in cell lysates: L-2-HGDH deficiency in 15 patients with L-2-hydroxyglutaric aciduria.
Kranendijk M, Salomons GS, Gibson KM, Aktuglu-Zeybek C, Bekri S, Christensen E, Clarke J, Hahn A, Korman SH, Mejaski-Bosnjak V, Superti-Furga A, Vianey-Saban C, van der Knaap MS, Jakobs C, Struys EA. Kranendijk M, et al. Among authors: christensen e. J Inherit Metab Dis. 2009 Dec;32(6):713. doi: 10.1007/s10545-009-1282-x. Epub 2009 Oct 10. J Inherit Metab Dis. 2009. PMID: 19821142
Heterogeneity in di/trihydroxycholestanoic acidaemia.
ten Brink HJ, Wanders RJ, Christensen E, Brandt NJ, Jakobs C. ten Brink HJ, et al. Among authors: christensen e. Ann Clin Biochem. 1994 Mar;31 ( Pt 2):195-7. doi: 10.1177/000456329403100217. Ann Clin Biochem. 1994. PMID: 8060102 No abstract available.
Diagnosis and management of glutaric aciduria type I--revised recommendations.
Kölker S, Christensen E, Leonard JV, Greenberg CR, Boneh A, Burlina AB, Burlina AP, Dixon M, Duran M, García Cazorla A, Goodman SI, Koeller DM, Kyllerman M, Mühlhausen C, Müller E, Okun JG, Wilcken B, Hoffmann GF, Burgard P. Kölker S, et al. Among authors: christensen e. J Inherit Metab Dis. 2011 Jun;34(3):677-94. doi: 10.1007/s10545-011-9289-5. Epub 2011 Mar 23. J Inherit Metab Dis. 2011. PMID: 21431622 Free PMC article. Review.
1,521 results