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Neuropediatrics|August 30, 2000
Combined D-2- and L-2-hydroxyglutaric aciduria with neonatal onset encephalopathy: a third biochemical variant of 2-hydroxyglutaric aciduria?A C Muntau, W Röschinger, A Merkenschlager, et al.Bone Marrow Transplantation|August 11, 2001
Successful HLA-identical bone marrow transplantation in a patient with PNP deficiency using busulfan and fludarabine for conditioningC F Classen, A S Schulz, M Sigl-Kraetzig, et al.Diabetologia|October 18, 2012
Association of exercise-induced hyperinsulinaemic hypoglycaemia with MCT1-expressing insulinomaJ Marquard, A Welters, T Buschmann, et al.Neuropediatrics|June 15, 2006
The first case of 3-methylcrotonyl-CoA carboxylase (MCC) deficiency responsive to biotinD Friebel, M von der Hagen, E R Baumgartner, et al.Clinical Chemistry|December 10, 1999
Biochemical and molecular genetic characteristics of the severe form of tyrosine hydroxylase deficiencyC Bräutigam, G C Steenbergen-Spanjers, G F Hoffmann, et al.Clinical Chemistry|September 11, 1998
Biochemical hallmarks of tyrosine hydroxylase deficiencyC Bräutigam, R A Wevers, R J Jansen, et al.Journal of Inherited Metabolic Disease|October 25, 2008
Tetrahydrobiopterin deficiency in human rabiesR E Willoughby, T Opladen, T Maier, et al.Journal of Inherited Metabolic Disease|July 18, 2002
A new case of CDG-x with stereotyped dystonic hand movements and optic atrophyV Prietsch, V Peters, R Hackler, et al.European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|March 22, 2000
Adenylosuccinase deficiency: possibly underdiagnosed encephalopathy with variable clinical featuresM Köhler, B Assmann, C Bräutigam, et al.Journal of Inherited Metabolic Disease|November 5, 1997
Dihydropyrimidinase deficiency and congenital microvillous atrophy: coincidence or genetic relation?B Assmann, G F Hoffmann, L Wagner, et al.Pageof 28