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Browsing by Author Hoffmann, G.F.

Full Text	Issue Date	Title	Author(s)
	2010	Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis.	Willemsen, M.A.A.P.; Verbeek, M.M.; Kamsteeg, E.J.; Rijk-van Andel, J.F. de; Aeby, A., et al
	2010	A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism.	Morava, E.; Wevers, R.A.; Cantagrel, V.; Hoefsloot, L.H.; Al-Gazali, L., et al
	2010	Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency.	Brun, L.; Ngu, L.H.; Keng, W.T.; Ch'ng, G.S.; Choy, Y.S., et al
	2009	Coenzyme Q(10) is decreased in fibroblasts of patients with methylmalonic aciduria but not in mevalonic aciduria.	Haas, D.; Niklowitz, P.; Horster, F.; Baumgartner, E.R.; Prasad, C., et al
	2008	Recurrent acute liver failure and mitochondriopathy in a case of Wolcott-Rallison syndrome.	Engelmann, G.; Meyburg, J.; Shahbek, N.; Al-Ali, M.; Hairetis, M.H., et al
	2007	Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene.	Verbeek, M.M.; Steenbergen-Spanjers, G.C.H.; Willemsen, M.A.A.P.; Hol, F.A.; Smeitink, J.A.M., et al
	2006	Clinical findings and a therapeutic trial in the first patient with beta-ureidopropionase deficiency.	Assmann, B.; Gohlich, G.; Baethmann, M.; Wevers, R.A.; Gennip, A.H. van, et al
	2006	Secondary mitochondrial dysfunction in propionic aciduria: a pathogenic role for endogenous mitochondrial toxins.	Schwab, M.A.; Sauer, S.W.; Okun, J.G.; Nijtmans, L.G.J.; Rodenburg, R.J.T., et al
	2005	Fumarase deficiency presenting with periventricular cysts.	Loeffen, J.L.C.M.; Smeets, R.; Voit, T.; Hoffmann, G.F.; Smeitink, J.A.M.
	2005	Optimized spectrophotometric assay for the completely activated pyruvate dehydrogenase complex in fibroblasts.	Schwab, M.A.; Kolker, S.; Heuvel, L.P.W.J. van den; Sauer, S.; Wolf, N.I., et al
	2004	beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities.	Kuilenburg, A.B.P. van; Meinsma, R.; Beke, E.; Assmann, B.; Ribes, A., et al
	2004	Infantile Parkinsonism-dystonia and elevated dopamine metabolites in CSF.	Assmann, B.; Robinson, R.O.; Surtees, R.; Brautigam, C.; Heales, S.J., et al
	2004	Sedation with 4-hydroxybutyric acid: a potential pitfall in the diagnosis of SSADH deficiency.	Wolf, N.I.; Haas, D.; Hoffmann, G.F.; Jakobs, C.; Salomons, G.S., et al
	1997	Aromatischer L-Aminosauredecarboxylasemangel: biochemische und klinische Variabilitat anhand zweier Familien	Kohler, M.; Brautigam, C.; Knust, A.; Wevers, R.A.; Hyland, K., et al
	1997	Dihydropyrimidinase deficiency and congenital microvillous atrophy: coincidence or genetic relation?	Assmann, B.E.; Hoffmann, G.F.; Wagner, L.; Brautigam, C.; Seyberth, H.W., et al
	1997	Phosphomannomutase deficiency is the main cause of carbohydrate deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins	Jaeken, J.; Artigas, J.; Barone, R.; Fiumara, A.; Koning, T.J., et al