Potentials and current shortcomings in the cooperation between German centers for rare diseases and primary care physicians: results from the project TRANSLATE-NAMSE
Druschke, D, Krause, F, Müller, G, Scharfe, J, Hoffmann, G F, Schmitt, J
Published in Orphanet journal of rare diseases (24.11.2021)
Published in Orphanet journal of rare diseases (24.11.2021)
Get full text
Journal Article
Aromatic l-amino acid decarboxylase deficiency: clinical features, drug therapy and follow-up
Manegold, C, Hoffmann, G. F, Degen, I, Ikonomidou, H, Knust, A, Laaß, M. W, Pritsch, M, Wilichowski, E, Hörster, F
Published in Journal of inherited metabolic disease (01.06.2009)
Published in Journal of inherited metabolic disease (01.06.2009)
Get full text
Journal Article
Conference Proceeding
Presymptomatic treatment of neonatal guanidinoacetate methyltransferase deficiency
Schulze, A, Hoffmann, G F, Bachert, P, Kirsch, S, Salomons, G S, Verhoeven, N M, Mayatepek, E
Published in Neurology (22.08.2006)
Published in Neurology (22.08.2006)
Get more information
Journal Article
Guideline for the diagnosis and management of glutaryl‐CoA dehydrogenase deficiency (glutaric aciduria type I)
Kölker, S., Christensen, E., Leonard, J. V., Greenberg, C. R., Burlina, A. B., Burlina, A. P., Dixon, M., Duran, M., Goodman, S. I., Koeller, D. M., Müller, E., Naughten, E. R., Neumaier‐Probst, E., Okun, J. G., Kyllerman, M., Surtees, R. A., Wilcken, B., Hoffmann, G. F., Burgard, P.
Published in Journal of inherited metabolic disease (01.02.2007)
Published in Journal of inherited metabolic disease (01.02.2007)
Get full text
Journal Article
Late-onset neurologic disease in glutaryl-CoA dehydrogenase deficiency
Külkens, S, Harting, I, Sauer, S, Zschocke, J, Hoffmann, G F, Gruber, S, Bodamer, O A, Kölker, S
Published in Neurology (28.06.2005)
Published in Neurology (28.06.2005)
Get more information
Journal Article
Neonatal screening for glutaryl‐CoA dehydrogenase deficiency
Lindner, M., KÖlker, S., Schulze, A., Christensen, E., Greenberg, C. R., Hoffmann, G. F.
Published in Journal of inherited metabolic disease (01.11.2004)
Published in Journal of inherited metabolic disease (01.11.2004)
Get full text
Journal Article
Pyridoxal 5′‐phosphate may be curative in early‐onset epileptic encephalopathy
Hoffmann, G. F., Schmitt, B., Windfuhr, M., Wagner, N., Strehl, H., Bagci, S., Franz, A. R., Mills, P. B., Clayton, P. T., Baumgartner, M. R., Steinmann, B., Bast, T., Wolf, N. I., Zschocke, J.
Published in Journal of inherited metabolic disease (01.02.2007)
Published in Journal of inherited metabolic disease (01.02.2007)
Get full text
Journal Article
Leukoencephalopathy with ataxia, hypodontia, and hypomyelination
Wolf, N I, Harting, I, Boltshauser, E, Wiegand, G, Koch, M J, Schmitt-Mechelke, T, Martin, E, Zschocke, J, Uhlenberg, B, Hoffmann, G F, Weber, L, Ebinger, F, Rating, D
Published in Neurology (26.04.2005)
Published in Neurology (26.04.2005)
Get more information
Journal Article
Liver cell transplantation for the treatment of inborn errors of metabolism
Get full text
Journal Article
Conference Proceeding
Glutaric aciduria type I: From clinical, biochemical and molecular diversity to successful therapy
Get full text
Journal Article
Conference Proceeding
Emergency management of inherited metabolic diseases
Prietsch, V., Lindner, M., Zschocke, J., Nyhan, W. L., Hoffmann, G. F.
Published in Journal of inherited metabolic disease (01.11.2002)
Published in Journal of inherited metabolic disease (01.11.2002)
Get full text
Journal Article
Inborn errors of metabolism and motor disturbances in children
García-Cazorla, A, Wolf, N. I, Serrano, M, Pérez-Dueñas, B, Pineda, M, Campistol, J, Fernández-Alvarez, E, Colomer, J, DiMauro, S, Hoffmann, G. F
Published in Journal of inherited metabolic disease (01.10.2009)
Published in Journal of inherited metabolic disease (01.10.2009)
Get full text
Journal Article
Effects of cholesterol and simvastatin treatment in patients with Smith-Lemli-Opitz syndrome (SLOS)
Haas, D, Garbade, S. F, Vohwinkel, C, Muschol, N, Trefz, F. K, Penzien, J. M, Zschocke, J, Hoffmann, G. F, Burgard, P
Published in Journal of inherited metabolic disease (01.06.2007)
Published in Journal of inherited metabolic disease (01.06.2007)
Get full text
Journal Article
Deletion of a single mevalonate kinase (Mvk) allele yields a murine model of hyper-IgD syndrome
Hager, E. J, Tse, H. M, Piganelli, J. D, Gupta, M, Baetscher, M, Tse, T. E, Pappu, A. S, Steiner, R. D, Hoffmann, G. F, Gibson, K. M
Published in Journal of inherited metabolic disease (01.11.2007)
Published in Journal of inherited metabolic disease (01.11.2007)
Get full text
Journal Article
Tetrahydrobiopterin deficiency in human rabies
Willoughby, R. E, Opladen, T, Maier, T, Rhead, W, Schmiedel, S, Hoyer, J, Drosten, C, Rupprecht, C. E, Hyland, K, Hoffmann, G. F
Published in Journal of inherited metabolic disease (01.02.2009)
Published in Journal of inherited metabolic disease (01.02.2009)
Get full text
Journal Article
Conference Proceeding
Pathogenesis of CNS involvement in disorders of amino and organic acid metabolism
Kölker, S., Sauer, S. W., Hoffmann, G. F., Müller, I., Morath, M. A., Okun, J. G.
Published in Journal of inherited metabolic disease (01.04.2008)
Published in Journal of inherited metabolic disease (01.04.2008)
Get full text
Journal Article
Conference Proceeding
Abnormal sterol metabolism in holoprosencephaly: studies in cultured lymphoblasts
Haas, D, Morgenthaler, J, Lacbawan, F, Long, B, Runz, H, Garbade, S F, Zschocke, J, Kelley, R I, Okun, J G, Hoffmann, G F, Muenke, M
Published in Journal of medical genetics (01.05.2007)
Published in Journal of medical genetics (01.05.2007)
Get full text
Journal Article