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Journal of Inherited Metabolic Disease|May 9, 2000
Enhanced lymphocyte proliferation in patients with adrenoleukodystrophy treated with erucic acid (22:1)-rich triglyceridesR B Pour, S Stöckler-Ipsiroglu, D H Hunneman, et al.
Molecular Genetics and Metabolism|July 21, 2009
Natural history of Niemann-Pick disease type C in a multicentre observational retrospective cohort studyJ E Wraith, N Guffon, M Rohrbach, et al.
Neuropediatrics|June 10, 2005
Pipecolic acid as a diagnostic marker of pyridoxine-dependent epilepsyB Plecko, C Hikel, G-C Korenke, et al.
European Journal of Pediatrics|March 1, 1992
Combined deficiencies of the pyruvate dehydrogenase complex and enzymes of the respiratory chain in mitochondrial myopathiesW Sperl, W Ruitenbeek, R C Sengers, et al.
European Journal of Pediatrics|December 1, 1990
Isolated and combined deficiencies of NADH dehydrogenase (complex I) in muscle tissue of children with mitochondrial myopathiesG C Korenke, H A Bentlage, W Ruitenbeek, et al.
Molecular Genetics and Metabolism|August 7, 2009
Miglustat in patients with Niemann-Pick disease Type C (NP-C): a multicenter observational retrospective cohort studyM Pineda, J E Wraith, E Mengel, et al.
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