Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop (English)
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In:
Journal of Inherited Metabolic Disease
;
32
, 4
; 488-497
;
2009
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ISSN:
- Article (Journal) / Electronic Resource
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Title:Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop
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Contributors:Spiekerkoetter, U. ( author ) / Lindner, M. ( author ) / Santer, R. ( author ) / Grotzke, M. ( author ) / Baumgartner, M. R. ( author ) / Boehles, H. ( author ) / Das, A. ( author ) / Haase, C. ( author ) / Hennermann, J. B. ( author ) / Karall, D. ( author )
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Published in:Journal of Inherited Metabolic Disease ; 32, 4 ; 488-497
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Publisher:
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Place of publication:Hoboken, NJ
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Publication date:2009
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DOI:
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Type of media:Article (Journal)
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Type of material:Electronic Resource
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Language:English
- New search for: 44.48 / 44.33 / 44.48$jMedizinische Genetik / 44.33$jPhysiologische Chemie
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BKL: 44.48 Medizinische Genetik / 44.33 Physiologische Chemie / 44.48$jMedizinische Genetik / 44.33$jPhysiologische Chemie -
Source:
Table of contents – Volume 32, Issue 4
The tables of contents are generated automatically and are based on the data records of the individual contributions available in the index of the TIB portal. The display of the Tables of Contents may therefore be incomplete.
- 459
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Inherited disorders in the conversion of methionine to homocysteineBarić, Ivo et al. | 2009
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Large neutral amino acids supplementation in phenylketonuric patientsRocha, J. C. / Martel, F. et al. | 2009
- 481
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Can we use statins to prevent stroke in Fabry disease?Politei, J. M. et al. | 2009
- 488
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Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshopSpiekerkoetter, U. / Lindner, M. / Santer, R. / Grotzke, M. / Baumgartner, M. R. / Boehles, H. / Das, A. / Haase, C. / Hennermann, J. B. / Karall, D. et al. | 2009
- 498
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Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshopSpiekerkoetter, U. / Lindner, M. / Santer, R. / Grotzke, M. / Baumgartner, M. R. / Boehles, H. / Das, A. / Haase, C. / Hennermann, J. B. / Karall, D. et al. | 2009
- 506
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Metabolic phenotypes of phenylketonuria. Kinetic and molecular evaluation of the Blaskovics protein loading testLangenbeck, U. / Burgard, P. / Wendel, U. / Lindner, M. / Zschocke, J. et al. | 2009
- 514
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Blood phenylalanine concentrations in patients with PAH-deficient hyperphenylalaninaemia off diet without and with three different single oral doses of tetrahydrobiopterin: Assessing responsiveness in a model of statistical process controlLindner, M. / Gramer, G. / Garbade, S. F. / Burgard, P. et al. | 2009
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Long-term needs of adult patients with organic acidaemias: outcome and prognostic factorsMartín-Hernández, E. / Lee, P. J. / Micciche, A. / Grunewald, S. / Lachmann, R. H. et al. | 2009
- 534
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Mortality and cause of death in mucopolysaccharidosis type II—a historical review based on data from the Hunter Outcome Survey (HOS)Jones, S. A. / Almássy, Z. / Beck, M. / Burt, K. / Clarke, J. T. / Giugliani, R. / Hendriksz, C. / Kroepfl, T. / Lavery, L. / Lin, S.-P. et al. | 2009
- 544
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Sleep-related breathing in children with mucopolysaccharidosisNashed, A. / Al-Saleh, S. / Gibbons, J. / MacLusky, I. / MacFarlane, J. / Riekstins, A. / Clarke, J. / Narang, I. et al. | 2009
- 551
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Autopsy case of Gaucher disease type I in a patient on enzyme replacement therapy. Comments on the dynamics of persistent storage processHůlková, H. / Ledvinová, J. / Poupětová, H. / Kohout, A. / Malinová, V. / Elleder, M. et al. | 2009
- 560
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An unusual genetic variant in the MOCS1 gene leads to complete missplicing of an alternatively spliced exon in a patient with molybdenum cofactor deficiencyArenas, M. / Fairbanks, L. D. / Vijayakumar, K. / Carr, L. / Escuredo, E. / Marinaki, A. M. et al. | 2009
- 570
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Coenzyme $ Q_{10} $ is decreased in fibroblasts of patients with methylmalonic aciduria but not in mevalonic aciduriaHaas, D. / Niklowitz, P. / Hörster, F. / Baumgartner, E. R. / Prasad, C. / Rodenburg, R. J. / Hoffmann, G. F. / Menke, T. / Okun, J. G. et al. | 2009
- 582
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Retinitis pigmentosa and mucopolysaccharidosis type II: an extremely attenuated phenotypeSuzuki, Y. / Aoyama, A. / Kato, T. / Shimozawa, N. / Orii, T. et al. | 2009
- 584
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In response to van Spronsen et al (2009) Phenylalanine tolerance can already reliably be assessed at the age of 2 years in patients with PKU (J Inherit Metab Dis 32: 27–31)Ponzone, Alberto / Mussa, Alessandro / Porta, Francesco et al. | 2009
- 587
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Serum phenylalanine concentrations in patients post trauma and burn correlate to neopterin concentrationsScholl-Buergi, S. / Neurauter, G. / Karall, D. / Fuchs, D. et al. | 2009