Zobrazeno 1 - 10
of 201
pro vyhledávání: '"H. J. Bremer"'
Autor:
K. D. Bachmann, H. Berger, J. Bierich, D. Boda, H.-J. Bremer, J. Brodehl, G. R. Burgio, K. Fischer, E. Gladtke, B. Hadorn, B. Hagberg, N. Hallman, H. G. Hansen, H. Harbauer, G.-A. von Harnack, W. C. Hecker, H. Helge, W. H. Hitzig, E. Huth, E. Kleihauer, W. Künzer, M. A. Lassrich, B. Leiber, B. Lindquist, W. Marget, J. Oehme, H. Olbing, R. A. Pfeiffer, A. Prader, K. Riegel, E. Rossi, K. Schärer, E. Schmidt, F.-J. Schulte, H. Spiess, J. Spranger, G. Stalder, U. Stephan, J. Stoermer, J. Ströder, W. Teller, R. Zetterström, E. Zweymüller
Autor:
Ertan Mayatepek, U. Hilgenfeldt, O Linderkamp, U. Himbert, H. J. Bremer, E. P. Zilow, U. Riester, Jochen Meyburg
Publikováno v:
European Journal of Pediatrics. 158:673-678
We report on two siblings suffering from a new congenital tubulopathy. Following normal pregnancies not complicated by polyhydramnios, severe renal losses of potassium, chloride, sodium and magnesium occurred in the first weeks after birth. Calcium m
Autor:
H. J. Bremer, Ertan Mayatepek, Joachim Pietz, Chris Boesch, Dietz Rating, Roland Kreis, André Rupp
Publikováno v:
Journal of Clinical Investigation
Large neutral amino acids (LNAAs), including phenylalanine (Phe), compete for transport across the blood-brain barrier (BBB) via the L-type amino acid carrier. Accordingly, elevated plasma Phe impairs brain uptake of other LNAAs in patients with phen
Autor:
P. Bührdel, P. C. Clemens, Kurt Ullrich, H. Przyrembel, P. Burgard, Friedrich K. Trefz, H. J. Bremer, E. Mönch
Publikováno v:
European Journal of Pediatrics. 158:46-54
Treatment of hyperphenylalaninaemias due to phenylalanine hydroxylase deficiency with a low phenylalanine (Phe) diet is highly successful in preventing neurological impairment and mental retardation. There is consensus that, for an optimal outcome, t
Publikováno v:
European Journal of Pediatric Surgery. 39:96-98
Whereas today intensive-paediatric management of the acute, life-threatening situation in organically conditioned hypoglycaemias is quite successful, conservative long-term treatment of nesidioblastosis is still unsatisfactory with regard to the prev
Autor:
Joachim Pietz, Dietz Rating, H. Schmidt, R. Dunckelmann, H. J. Bremer, H.-M. Meinck, André Rupp
Publikováno v:
European Journal of Pediatrics. 157:824-830
Due to the observation of severe neurological symptoms in single patients as well as brain imaging, neuropsychological and neurophysiological abnormalities, the long-term prognosis of treated phenylketonuria is still under discussion. We investigated
Autor:
Ertan Mayatepek, P.P. de Deyn, Peter Bachert, Andreas Schulze, H. J. Bremer, T. Hess, Ron A. Wevers, M.V. Knopp, Dietz Rating, Bart Marescau
Publikováno v:
The journal of pediatrics
Journal of Pediatrics, 131, 626-631
Journal of Pediatrics, 131, 4, pp. 626-631
Journal of Pediatrics, 131, 626-631
Journal of Pediatrics, 131, 4, pp. 626-631
Hepatic guanidinoacetate methyltransferase deficiency induces a deficiency of creatine/phosphocreatine in muscle and brain and an accumulation of guanidinoacetic acid (GAA), the precursor of creatine. We describe a patient with this defect, a 4-year-
Autor:
E. Mayatepek, G. F. Hoffmann, R. Baumgartner, A. Schulze, C. Jakobs, F. K. Trefz, H. J. Bremer
Publikováno v:
European Journal of Pediatrics. 155:398-403
Publikováno v:
European Journal of Pediatrics. 155:S33-S38
In a multicentric and interdisciplinary approach the German Collaborative Study of Children Treated for Phenylketonuria (PKU) investigates prospectively the effects of early started strict dietary treatment on the growth and development of 140 patien