Zobrazeno 1 - 10
of 36
pro vyhledávání: '"C. Brautigam"'
Autor:
J. Lawrence Marsh, Radhakant Sharma, C. Brautigam, Keith Hyland, Yuh Terng Chang, Georg F. Hoffmann, John Douglas Mcpherson, Joey A. Bedell, Andreas Knust
Publikováno v:
Annals of Neurology. 55:435-438
We report three siblings, who were treated empirically with levodopa combined with carbidopa. There was an immediate therapeutic response. Biochemical investigation surprisingly showed the clinical phenotype to be caused by aromatic L–amino acid de
Autor:
Carlo Dionisi-Vici, Georg F. Hoffmann, Markus Naumann, C. Brautigam, Johannes B C De Klerk, Martin Häussler, Birgit Assmann, G.C.H. Steenbergen-Spanjers, Hans Michael Strassburg, Ron A. Wevers
Publikováno v:
Annals of Neurology, 54, 56-65. John Wiley & Sons Inc.
Annals of Neurology, 54, S56-65
Annals of Neurology, 54, Suppl 6, pp. S56-65
Annals of Neurology, 54, S56-65
Annals of Neurology, 54, Suppl 6, pp. S56-65
Item does not contain fulltext Tyrosine hydroxylase (TH) is the key enzyme in the biosynthesis of the catecholamines dopamine, epinephrine, and norepinephrine. Recessively inherited deficiency of TH was recently identified and incorporated into recen
Autor:
G.J. Stock, L. Wagner, Georg F. Hoffmann, K. Hyland, Radhakant Sharma, C. Brautigam, F. Heitmann, Ron A. Wevers
Publikováno v:
Neuropediatrics, 33, 113-7
Neuropediatrics, 33, 3, pp. 113-7
Neuropediatrics, 33, 3, pp. 113-7
Item does not contain fulltext Aromatic L-amino acid decarboxylase (AADC) is a vitamin B 6 requiring enzyme involved in the biosynthesis of the neurotransmitters dopamine (DA) and serotonin. Lack of AADC leads to a combined deficiency of the catechol
Autor:
Gudrun Göhlich-Ratmann, Udo F. H. Engelke, Sytske H. Moolenaar, Peter Vreken, Albert H. van Gennip, Eberhard Humpfer, Georg F. Hoffmann, C. Brautigam, André B.P. van Kuilenburg, Manfred Spraul, Ron A. Wevers, Peter Dvortsak, Thomas Voit
Publikováno v:
Magnetic Resonance in Medicine. 46:1014-1017
In this work, NMR investigations that led to the discovery of a new inborn error of metabolism, beta-ureidopropionase (UP) deficiency, are reported. 1D (1)H-NMR experiments were performed using a patient's urine. 3-Ureidopropionic acid was observed i
Autor:
Georg F. Hoffmann, Ron A. Wevers, A. H. van Gennip, Agata Fiumara, Jaak Jaeken, N. G. G. M. Abeling, A. Knust, C. Brautigam, Peter G. Barth
Publikováno v:
Journal of Inherited Metabolic Disease, 23, 325-328
Journal of inherited metabolic disease, 23(4), 325-328. Springer Netherlands
Journal of Inherited Metabolic Disease, 23, pp. 325-328
Journal of inherited metabolic disease, 23(4), 325-328. Springer Netherlands
Journal of Inherited Metabolic Disease, 23, pp. 325-328
Aromatic L-amino acid decarboxylase (AADC, EC 4.1.1.28) catalyses the conversion of 5-hydroxytryptophan to serotonin in serotonergic neurons and of dopa to dopamine in catecholaminergic neurons and adrenal medullary cells. The enzyme thus plays a key
Autor:
Jan A.M. Smeitink, G.C.H. Steenbergen-Spanjers, Lambert P. van den Heuvel, Carlo Dionisi-Vici, Ron A. Wevers, C. Brautigam, Georg F. Hoffmann
Publikováno v:
Clinical Chemistry. 45:2073-2078
Background: Tyrosine hydroxylase (TH) catalyzes the rate-limiting step in the biosynthesis of the catecholamines dopamine, norepinephrine, and epinephrine. Recently, mutations were identified in cases of autosomal recessive dopa-responsive dystonia a
Autor:
Albert H. van Gennip, Udo F. H. Engelke, Ries Duran, Ronney A. de Abreu, Jan G.N. de Jong, Sytske H. Moolenaar, Ron A. Wevers, C. Brautigam
Publikováno v:
Clinical Chemistry. 45:539-548
Background: The diagnosis of inborn errors of purine and pyrimidine metabolism is often difficult. We examined the potential of 1H-NMR as a tool in evaluation of patients with these disorders. Methods: We performed 1H-NMR spectroscopy on 500 and 600
Autor:
Georg F. Hoffmann, Riet J. T. Jansen, Ron A. Wevers, Johanneke F. de Rijk-van Andel, Fons J. M. Gabreëls, C. Brautigam, Jan A.M. Smeitink
Publikováno v:
Clinical Chemistry. 44:1897-1904
We report the biochemical hallmarks of tyrosine hydroxylase deficiency with emphasis on reliable diagnostic strategies of four new cases of an inborn error of tyrosine hydroxylase (TH). Three of our patients from different parts of the Netherlands we
Autor:
C. Brautigam, H. W. Seyberth, A.B.P. van Kuilenburg, Birgit Assmann, Ron A. Wevers, Georg F. Hoffmann, Marinus Duran, L. Wagner, A. H. van Gennip
Publikováno v:
Journal of Inherited Metabolic Disease, 20, 681-688
Journal of inherited metabolic disease, 20(5), 681-688. Springer Netherlands
Journal of inherited metabolic disease, 20, 681-688. Springer Netherlands
Journal of Inherited Metabolic Disease, 20, pp. 681-688
Journal of inherited metabolic disease, 20(5), 681-688. Springer Netherlands
Journal of inherited metabolic disease, 20, 681-688. Springer Netherlands
Journal of Inherited Metabolic Disease, 20, pp. 681-688
We describe a boy of consanguineous parents who suffered from intractable diarrhoea due to congenital microvillous atrophy, a recessively inherited autosomal disorder. He developed severe cholestatis starting at 2 weeks of age and leading to liver ci
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