Search Results - "Assmann, B."

Unilateral facial flushing and sweating after physical exercise: Harlequin syndrome by Sabir, H, Babor, F, Kieseier, B C, Mayatepek, E, Assmann, B

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Severe Encephalopathy, Lactic Acidosis, Vegetative Instability and Neuropathy with 5-Fluorouracil Treatment – Pyrimidine Degradation Defect or Beriberi by Rosen, A., van Kuilenburg, A., Assmann, B., Kuhlen, M., Borkhardt, A.

“…We present the case of a 19-year-old female with nasopharyngeal carcinoma, who received two courses of chemotherapy with 5-fluorouracil (5-FU) in combination…”
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Sandifer syndrome--a multidisciplinary diagnostic and therapeutic challenge by Lehwald, N, Krausch, M, Franke, C, Assmann, B, Adam, R, Knoefel, W T

“…Sandifer syndrome, named after the neurologist Paul Sandifer, was first reported by M. Kinsbourne in 1962 who noticed a disorder of the upper gastrointestinal…”
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Congenital disorder of glycosylation IId (CDG-IId) -- a new entity: clinical presentation with Dandy-Walker malformation and myopathy by Peters, V, Penzien, J M, Reiter, G, Körner, C, Hackler, R, Assmann, B, Fang, J, Schaefer, J R, Hoffmann, G F, Heidemann, P H

“…A 1.5-year-old boy with macrocephaly due to a Dandy-Walker malformation presented with progressive hydrocephalus, extensive muscular hypotonia, transient…”
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Haptic Perception in Anorexia Nervosa Before and After Weight Gain by Grunwald, Martin, Ettrich, Christine, Krause, Werner, Assmann, Bianka, Dhne, Angelika, Weiss, Thomas, Gertz, Hermann-Joseph

“…Haptic perception of patients with anorexia nervosa (n =10) was analyzed in a longitudinal study (T 0 T 1). The haptic explorations consisted of palpating the…”
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O6-1 Loss-of-function mutations in the gene encoding the dopamine transporter, SLC6A3, cause Infantile Parkinsonism Dystonia (IPD) by Kurian, M.A, Zhen, J, Cheng, S.-Y, Li, Y, Mordekar, S.R, Jardine, P, Morgan, N.V, Meyer, E, Tee, L, Pasha, S, Wassmer, E, Assmann, B, Heales, S.J.R, Gissen, P, Reith, M.E.A, Maher, E.R

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A new case of CDG‐x with stereotyped dystonic hand movements and optic atrophy by Prietsch, V., Peters, V., Hackler, R., Jakobi, R., Assmann, B., Fang, J., Körner, C., Helwig‐Rolig, A., Schaefer, J. R., Hoffmann, G. F.

“…We report the clinical findings and the diagnostic work‐up of a 17‐month‐old girl with CDG‐x. Predominant clinical signs were, besides psychomotor retardation…”
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Infantile parkinsonism-dystonia and elevated dopamine metabolites in CSF by ASSMANN, B. E, ROBINSON, R. O, SURTEES, R. A. H, BRÄUTIGAM, C, HEALES, S. J. R, WEVERS, R. A, ZSCHOCKE, J, HYLAND, K, SHARMA, R, HOFFMANN, G. F

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Looking forward—An evidence‐based approach to glutaryl‐CoA dehydrogenase deficiency by KÖlker, S., Burgard, P., Okun, J. G., Schulze‐Bergkamen, A., Assmann, B., Greenberg, C. R., Hoffmann, G. F.

“…Three decades after the first description of glutaryl‐CoA dehydrogenase deficiency, major progress has been achieved in the prevention of acute striatal…”
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Infantile Parkinsonism-dystonia and elevated dopamine metabolites in CSF by Assmann, B E, Robinson, R O, Surtees, R A H, Bräutigam, C, Heales, S J R, Wevers, R A, Zschocke, J, Hyland, K, Sharma, R, Hoffmann, G F

“…Two girls and one boy are described, with severe infantile parkinsonism-dystonia. This syndrome is usually caused by endogenous dopamine deficiency but in…”
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Dihydropyridmidinase deficiency and congenital microvillous atrophy: Coincidence or genetic relation? by Assmann, B., Hoffmann, G. F., Wagner, L., Bräutigam, C., Seyberth, H. W., Duran, M., Van Kuilenburg, A. B. P., Wevers, R., Van Gennip, A. H.

“…We describe a boy of consanguineous parents who suffered from intractable diarrhoea due to congenital microvillous atrophy, a recessively inherited autosomal…”
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Detection of β‐ureidopropionase deficiency with HPLC–electrospray tandem mass spectrometry and confirmation of the defect at the enzyme level by Van Kuilenburg, A. B. P., Van Lenthe, H., Assmann, B., Göhlich‐Ratmann, G., Hoffmann, G. F., Bräutigam, C., Wevers, R. A., Van Gennip, A. H.

“…The pyrimidine bases uracil and thymine are degraded via the consecutive action of three enzymes to β‐alanine and β‐aminoisobutyric acid, respectively. To…”
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Magnetic susceptibility, heat capacity, and optical conductivity of LiPc and LiPcI by DUMM, M, DRESSEL, M, NICKLAS, M, LUNKENHEIMER, P, LOIDL, A, WEIDEN, M, STEGLICH, F, ASSMANN, B, HOMBORG, H, FULDE, P

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Increased carbohydrate-deficient transferrin concentration and abnormal protein glycosylation of unknown etiology in a patient with achondroplasia by Assmann, B, Hackler, R, Peters, V, Schaefer, J R, Hoffmann, G F

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Phosphomannomutase deficiency is the main cause of carbohydrate‐deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins by Jaeken, J., Artigas, J., Barone, R., Fiumara, A., Koning, T. J., Poll‐The, B. T., Rijk‐van Andel, J. F., Hoffmann, G. F., Assmann, B., Mayatepek, E., Pineda, M., Vilaseca, M. A., Saudubray, J. M., Schlüter, B., Wevers, R., Van Schaftingen, E.

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A new subtype of a congenital disorder of glycosylation (CDG) with mild clinical manifestations by Assmann, B, Hackler, R, Peters, V, Schaefer, J R, Arndt, T, Mayatepek, E, Jaeken, J, Hoffmann, G F

“…A boy with an unspecific symptomatology consisting of mental retardation, strabismus, hypotonia and mild ataxia was diagnosed with a congenital disorder of…”
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Confirmation of the enzyme defect in the first case of beta-ureidopropionase deficiency. Beta-alanine deficiency by van Kuilenburg, A B, van Lenthe, H, Ratmann, G G, Assmann, B, Hoffmann, G F, Brautigam, C, van Gennip, A H

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Electrical and magnetic properties of LiPc and LiPcI by Dumm, M., Spitzfaden, R., Lunkenheimer, P., Dressel, M., Loidl, A., Aβmann, B., Homborg, H., Fulde, P.

“…We studied the ac electrical (20 Hz ≤ v ≤ 1GHz) and magnetic properties of the molecular semiconductors lithium phthalocyanine (LiPc) and lithium…”
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Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients by van Kuilenburg, André B.P., Dobritzsch, Doreen, Meijer, Judith, Meinsma, Rutger, Benoist, Jean-François, Assmann, Birgit, Schubert, Susanne, Hoffmann, Georg F., Duran, Marinus, de Vries, Maaike C., Kurlemann, Gerd, Eyskens, François J.M., Greed, Lawrence, Sass, Jörn Oliver, Schwab, K. Otfried, Sewell, Adrian C., Walter, John, Hahn, Andreas, Zoetekouw, Lida, Ribes, Antonia, Lind, Suzanne, Hennekam, Raoul C.M.

“…Dihydropyrimidinase (DHP) is the second enzyme of the pyrimidine degradation pathway and catalyses the ring opening of 5,6-dihydrouracil and…”
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β-Ureidopropionase deficiency: Phenotype, genotype and protein structural consequences in 16 patients by van, Kuilenburg ABP, Dobritzsch, D, Meijer, J, Krumpel, M, Selim, LA, Rashed, MS, Assmann, B, Meinsma, R, Lohkamp, B, Ito, T

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