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Pediatric Research|September 1, 1994
Creatine deficiency in the brain: a new, treatable inborn error of metabolismS Stöckler, U Holzbach, F Hanefeld, et al.
Epilepsia|December 1, 1995
Hemimegalencephaly: localized proton magnetic resonance spectroscopy in vivoF Hanefeld, B Kruse, U Holzbach, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|January 27, 1999
Novel GLRA1 missense mutation (P250T) in dominant hyperekplexia defines an intracellular determinant of glycine receptor channel gatingB Saul, T Kuner, D Sobetzko, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|September 15, 1983
Succinic semialdehyde dehydrogenase deficiency: an inborn error of gamma-aminobutyric acid metabolismK M Gibson, L Sweetman, W L Nyhan, et al.
Journal of Computer Assisted Tomography|May 1, 1992
Proton NMR spectroscopy of cerebral metabolic alterations in infantile peroxisomal disordersH Bruhn, B Kruse, G C Korenke, et al.
Journal of Child Neurology|August 21, 2001
Cytochrome c oxidase partial deficiency-associated Leigh disease presenting as an extrapyramidal syndromeM Cacić, E Wilichowski, V Mejaski-Bosnjak, et al.
Journal of Inherited Metabolic Disease|March 1, 1997
Decreased platelet membrane anisotropy in patients with adrenoleukodystrophy treated with erucic acid (22:1)-rich triglyceridesS Stöckler, C Opper, A Greinacher, et al.
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