Issue 6/2009
Content (12 Articles)
Mitochondria and diabetes mellitus: untangling a conflictive relationship?
M. Schiff, S. Loublier, A. Coulibaly, P. Bénit, H. Ogier de Baulny, P. Rustin
Heterozygous familial hypercholesterolaemia in childhood: Cardiovascular risk prevention
A. van der Graaf, J. J. P. Kastelein, A. Wiegman
Remarkable differences: the course of life of young adults with galactosaemia and PKU
A. M. Bosch, H. Maurice-Stam, F. A. Wijburg, M. A. Grootenhuis
Development and implementation of a novel assay for l-2-hydroxyglutarate dehydrogenase (l-2-HGDH) in cell lysates: l-2-HGDH deficiency in 15 patients with l-2-hydroxyglutaric aciduria
M. Kranendijk, G. S. Salomons, K. M. Gibson, C. Aktuglu-Zeybek, S. Bekri, E. Christensen, J. Clarke, A. Hahn, S. H. Korman, V. Mejaski-Bosnjak, A. Superti-Furga, C. Vianey-Saban, M. S. van der Knaap, C. Jakobs, E. A. Struys
Long-term exposure of human proximal tubule cells to hydroxycobalamin[c-lactam] as a possible model to study renal disease in methylmalonic acidurias
S. W. Sauer, S. Opp, A. Haarmann, J. G. Okun, S. Kölker, M. A. Morath
Hydroxocobalamin dose escalation improves metabolic control in cblC
N. Carrillo-Carrasco, J. Sloan, D. Valle, A. Hamosh, C. P. Venditti
Clinical and biochemical studies in mucopolysaccharidosis type II carriers
I. V. D. Schwartz, L. L. C. Pinto, G. Breda, L. Lima, M. G. Ribeiro, J. G. Mota, A. X. Acosta, P. Correia, D. D. G. Horovitz, C. G. G. Porciuncula, E. Lipinski-Figueiredo, A. C. Fett-Conte, R. P. Oliveira Sobrinho, D. Y. J. Norato, A. C. Paula, C. A. Kim, A. R. Duarte, R. Boy, S. Leistner-Segal, M. G. Burin, R. Giugliani
Ear symptoms in children with Fabry disease: data from the Fabry Outcome Survey
A. Keilmann, D. Hajioff, U. Ramaswami
Psychological aspects of patients with Fabry disease
T. Wilson Crosbie, Wendy Packman, S. Packman
Effort bruising disclosing Gaucher disease in a 55-year-old non-Jewish woman
M. Machaczka, M. Klimkowska, H. Hägglund
Erratum to: Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters
F. Hörster, S. F. Garbade, T. Zwickler, H. I. Aydin, O. A. Bodamer, A. B. Burlina, A. M. Das, J. B. C. De Klerk, C. Dionisi-Vici, S. Geb, G. Gökcay, N. Guffon, E. M. Maier, E. Morava, J. H. Walter, B. Schwahn, F. A. Wijburg, M. Lindner, S. Grünewald, M. R. Baumgartner, S. Kölker