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Acta Paediatrica (Oslo, Norway : 1992)|July 4, 2003
Reversibility of cirrhotic regenerative liver nodules upon NTBC treatment in a child with tyrosinaemia type IJ Crone, D Möslinger, O A Bodamer, et al.Anales Espanoles De Pediatria|March 23, 2001
[Evolution of a case of tyrosinemia type I treated with NTBC]J Ros Viladoms, M A Vilaseca Buscà, N Lambruschini Ferri, et al.Clinical Genetics|November 1, 1996
Glycerol kinase deficiency in two brothers with and without clinical manifestationsH K Blomquist, N Dahl, L Gustafsson, et al.European Journal of Pediatrics|February 1, 2000
Diagnosis and molecular analysis of an atypical case of holocarboxylase synthetase deficiencyO Sakamoto, Y Suzuki, X Li, et al.The Journal of Pediatrics|June 1, 1993
Recurrent metabolic decompensation in profound carnitine palmitoyltransferase II deficiencyO N Elpeleg, A Joseph, D Branski, et al.Neuropediatrics|December 1, 1996
Disorders of the cerebral white matter in children. The spectrum of lesionsR Kristjánsdóttir, P Uvebrant, B Hagberg, et al.Biochimica Et Biophysica Acta|October 13, 1992
Expression of wild-type and mutant medium-chain acyl-CoA dehydrogenase (MCAD) cDNA in eucaryotic cellsT G Jensen, B S Andresen, P Bross, et al.Nucleic Acids Research|February 13, 2001
Simultaneous A8344G heteroplasmy and mitochondrial DNA copy number quantification in myoclonus epilepsy and ragged-red fibers (MERRF) syndrome by a multiplex molecular beacon based real-time fluorescence PCRK Szuhai, J Ouweland, R Dirks, et al.Annals of Neurology|September 2, 2000
Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy linked to chromosome 10qA Melberg, A Oldfors, C Blomström-Lundqvist, et al.Human Genetics|March 10, 1999
Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiencyA B Van Kuilenburg, P Vreken, N G Abeling, et al.Pageof 22