Potentials and current shortcomings in the cooperation between German centers for rare diseases and primary care physicians: results from the project TRANSLATE-NAMSE von Druschke, D, Krause, F, Müller, G, Scharfe, J, Hoffmann, G F, Schmitt, J

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Aromatic l-amino acid decarboxylase deficiency: clinical features, drug therapy and follow-up von Manegold, C, Hoffmann, G. F, Degen, I, Ikonomidou, H, Knust, A, Laaß, M. W, Pritsch, M, Wilichowski, E, Hörster, F

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Presymptomatic treatment of neonatal guanidinoacetate methyltransferase deficiency von SCHULZE, A, HOFFMANN, G. F, BACHERT, P, KIRSCH, S, SALOMONS, G. S, VERHOEVEN, N. M, MAYATEPEK, E

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Guideline for the diagnosis and management of glutaryl‐CoA dehydrogenase deficiency (glutaric aciduria type I) von 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.

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Neurodegeneration and chronic renal failure in methylmalonic aciduria—A pathophysiological approach von Morath, M. A., Okun, J. G., Müller, I. B., Sauer, S. W., Hörster, F., Hoffmann, G. F., Kölker, S.

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Late-onset neurologic disease in glutaryl-CoA dehydrogenase deficiency von KÜLKENS, S, HARTING, I, SAUER, S, ZSCHOCKE, J, HOFFMANN, G. F, GRUBER, S, BODAMER, O. A, KÖLKER, S

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Neonatal screening for glutaryl‐CoA dehydrogenase deficiency von Lindner, M., KÖlker, S., Schulze, A., Christensen, E., Greenberg, C. R., Hoffmann, G. F.

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Leukoencephalopathy with ataxia, hypodontia, and hypomyelination von WOLF, N. I, HARTING, I, WEBER, L, EBINGER, F, RATING, D, BOLTSHAUSER, E, WIEGAND, G, KOCH, M. J, SCHMITT-MECHELKE, T, MARTIN, E, ZSCHOCKE, J, UHLENBERG, B, HOFFMANN, G. F

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Pyridoxal 5′‐phosphate may be curative in early‐onset epileptic encephalopathy von 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.

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Comparative phylogeography of short-tailed bats (Carollia: Phyllostomidae) von Hoffmann, F. G., Baker, R. J.

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Cardiac phenotype in propionic acidemia – Results of an observational monocentric study von Kovacevic, A., Garbade, S.F., Hoffmann, G.F., Gorenflo, M., Kölker, S., Staufner, C.

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Genotypic and phenotypic spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency von Goetz, M., Schröter, J., Dattner, T., Brennenstuhl, H., Lenz, D., Opladen, T., Hörster, F., Okun, J.G., Hoffmann, G.F., Kölker, S., Staufner, C.

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Glutaric aciduria type I: From clinical, biochemical and molecular diversity to successful therapy von Hoffmann, G. F., Zschocke, J.

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Liver cell transplantation for the treatment of inborn errors of metabolism von Meyburg, J., Hoffmann, G. F.

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Emergency management of inherited metabolic diseases von Prietsch, V., Lindner, M., Zschocke, J., Nyhan, W. L., Hoffmann, G. F.

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Effects of cholesterol and simvastatin treatment in patients with Smith-Lemli-Opitz syndrome (SLOS) von Haas, D, Garbade, S. F, Vohwinkel, C, Muschol, N, Trefz, F. K, Penzien, J. M, Zschocke, J, Hoffmann, G. F, Burgard, P

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A European Multicenter Study of Phenylalanine Hydroxylase Deficiency: Classification of 105 Mutations and a General System for Genotype-Based Prediction of Metabolic Phenotype von Guldberg, Per, Rey, Françoise, Zschocke, Johannes, Romano, Valentino, François, Baudouin, Michiels, Luc, Ullrich, Kurt, Hoffmann, Georg F., Burgard, Peter, Schmidt, Hildgund, Meli, Concetta, Riva, Enrica, Dianzani, Irma, Ponzone, Alberto, Rey, Jean, Güttler, Flemming

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Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency von Brun, L, Ngu, L H, Keng, W T, Ch'ng, G S, Choy, Y S, Hwu, W L, Lee, W T, Willemsen, M A A P, Verbeek, M M, Wassenberg, T, Régal, L, Orcesi, S, Tonduti, D, Accorsi, P, Testard, H, Abdenur, J E, Tay, S, Allen, G F, Heales, S, Kern, I, Kato, M, Burlina, A, Manegold, C, Hoffmann, G F, Blau, N

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Inborn errors of metabolism and motor disturbances in children von 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

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Abnormal sterol metabolism in holoprosencephaly: studies in cultured lymphoblasts von 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

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