Maple syrup urine disease: Favourable effect of early diagnosis by newborn screening on the neonatal course of the disease (English)
- New search for: Simon, E.
- New search for: Fingerhut, R.
- New search for: Baumkötter, J.
- New search for: Konstantopoulou, V.
- New search for: Ratschmann, R.
- New search for: Wendel, U.
- New search for: Simon, E.
- New search for: Fingerhut, R.
- New search for: Baumkötter, J.
- New search for: Konstantopoulou, V.
- New search for: Ratschmann, R.
- New search for: Wendel, U.
In:
Journal of Inherited Metabolic Disease
;
29
, 4
;
532-537
;
2006
- Article (Journal) / Electronic Resource
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Title:Maple syrup urine disease: Favourable effect of early diagnosis by newborn screening on the neonatal course of the disease
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Contributors:Simon, E. ( author ) / Fingerhut, R. ( author ) / Baumkötter, J. ( author ) / Konstantopoulou, V. ( author ) / Ratschmann, R. ( author ) / Wendel, U. ( author )
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Published in:Journal of Inherited Metabolic Disease ; 29, 4 ; 532-537
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Publisher:
- New search for: Kluwer Academic Publishers
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Publication date:2006-08-01
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Size:6 pages
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ISSN:
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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
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Source:
Table of contents – Volume 29, 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.
- 499
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Mitochondrial complex I: Structure, function and pathologyJanssen, Rolf J. R. J. / Nijtmans, Leo G. / Heuvel, Lambert P. van den / Smeitink, Jan A. M. et al. | 2006
- 516
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Classical galactosaemia revisitedBosch, Annet M. et al. | 2006
- 526
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‘Ready to drink’ protein substitute is easier is for people with phenylketonuriaMacDonald, A. / Lilburn M, M. / Davies, P. / Evans, S. / Daly, A. / Hall, S. K. / Hendriksz, C. / Chakrapani, A. / Lee, P. et al. | 2006
- 532
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Maple syrup urine disease: Favourable effect of early diagnosis by newborn screening on the neonatal course of the diseaseSimon, E. / Fingerhut, R. / Baumkötter, J. / Konstantopoulou, V. / Ratschmann, R. / Wendel, U. et al. | 2006
- 538
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S-Adenosylhomocysteine hydrolase deficiency in a 26-year-old manBuist, N. R. M. / Glenn, B. / Vugrek, O. / Wagner, C. / Stabler, S. / Allen, R. H. / Pogribny, I. / Schulze, A. / Zeisel, S. H. / Barić, I. et al. | 2006
- 546
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Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: A novel subtype of 3-methylglutaconic aciduriaRosa, Gabriella Di / Deodato, Federica / Loupatty, Ference J. / Rizzo, Cristiano / Carrozzo, Rosalba / Santorelli, Filippo M. / Boenzi, Sara / D'Amico, Adele / Tozzi, Giulia / Bertini, Enrico et al. | 2006
- 551
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Time course of acylcarnitine elevation in neonatal intrahepatic cholestasis caused by citrin deficiencyLee, Ni-Chung / Chien, Yin-Hsiu / Kobayashi, Keiko / Saheki, Takeyori / Chen, Huey-Ling / Chiu, Pao-Chin / Ni, Yen-Hsuan / Chang, Mei-Hwei / Hwu, Wuh-Liang et al. | 2006
- 556
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Seven cases of Pompe disease from GreeceKroos, M. / Manta, P. / Mavridou, I. / Muntoni, F. / Halley, D. / van den Helm, R. / Zaifeiriou, D. / van der Ploeg, A. / Reuser, A. / Michelakakis, H. et al. | 2006
- 564
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CCL18: A urinary marker of Gaucher cell burden in Gaucher patientsBoot, Rolf G. / Verhoek, Marri / Langeveld, Mirjam / Renkema, G. Herma / Hollak, Carla E. M. / Weening, Jan J. / Donker-Koopman, Wilma E. / Groener, Johanna E. / Aerts, Johannes M. F. G. et al. | 2006
- 572
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Improvement in serial cardiopulmonary exercise testing following enzyme replacement therapy in Fabry diseaseBierer, Gregory / Balfe, David / Wilcox, William R. / Mosenifar, Zab et al. | 2006
- 580
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Genetic and biochemical characterization of 16 acute intermittent porphyria cases with a high prevalence of the R173W mutationTo‐Figueras, J. / Badenas, C. / Carrera, C. / Muñoz, C. / Milá, M. / Lecha, M. / Herrero, C. et al. | 2006
- 586
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Newborn screening may fail to identify intermediate forms of maple syrup urine diseaseBhattacharya, K. / Khalili, V. / Wiley, V. / Carpenter, K. / Wilcken, B. et al. | 2006
- 586
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Ornithine transcarbamoylase deficiency presenting with acute liver failureMustafa, Ahlam / Clarke, Joe T. R. et al. | 2006
- 587
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Succinic semialdehyde dehydrogenase (SSADH) deficiency: Molecular analysis in a South American familyLemes, Aida / Blasi, Paola / Gonzales, Gabriel / Russi, Maria E. / Quadrelli, Roberto / Novelletto, Andrea / Malaspina, Patrizia et al. | 2006
- 587
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Persistent 5-oxoprolinuria with normal glutathione synthase and 5-oxoprolinase activitiesRuijter, G. J. G. / Mourad-Baars, P. E. C. / Ristoff, E. / Onkenhout, W. / Poorthuis, B. J. H. M. et al. | 2006
- 588
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Normal pregnancy outcome in L-2-hydroxyglutaric aciduriaJonckheere, A. / Carton, D. / Jaeken, J. / Gerlo, E. et al. | 2006
- 589
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Dietary intervention and oxidative phosphorylation capacityMorava, Eva / Rodenburg, Richard / van Essen, Heidi Zweers / De Vries, Maaike / Smeitink, Jan et al. | 2006
- 589
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Pericardial effusion in primary systemic carnitine deficiencyWattanasirichaigoon, Duangrurdee / Khowsathit, Pongsak / Visudtibhan, Anannit / Suthutvoravut, Umaporn / Charoenpipop, Dussadee / Kim, Sook Z. / Levy, Harvey L. / Shih, Vivian E. et al. | 2006
- 590
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Impact of 144 weeks of laronidase therapy on body functions, endurance and general well-being in a Hurler–Scheie patientSoutar, R. L. / Mercer, J. / Wraith, J. E. et al. | 2006
- 590
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Dietary treatment in adult-onset type II glycogenosisRavaglia, Sabrina / Pichiecchio, Anna / Rossi, Miriam / Filippi, Paola De / Minelli, Antonella / Moglia, Arrigo / Danesino, Cesare et al. | 2006
- 591
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Homozygosity for the double D409H+H255Q allele in type II Gaucher diseaseMichelakakis, Helen / Moraitou, Marina / Dimitriou, Evagelia / Santamaria, Raul / Sanchez, Gessami / Gort, Laura / Chabas, Amparo / Grinberg, Daniel / Dassopoulou, Maria / Fotopoulos, Spyros et al. | 2006
- 591
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Subclinical course of adult visceral Niemann–Pick type C1 disease. A rare or underdiagnosed disorder?Dvorakova, L. / Sikora, J. / Hrebicek, M. / Hulkova, H. / Bouckova, M. / Stolnaja, L. / Elleder, M. et al. | 2006
- 592
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Recurrent infections and immunological dysfunction in congenital disorder of glycosylation Ia (CDG Ia)Blank, C. / Smith, L. A. / Hammer, D. A. / Fehrenbach, M. / DeLisser, H. M. / Perez, E. / Sullivan, K. E. et al. | 2006
- 593
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Copper concentration of liver tissue under long-term copper-histidine therapy in a patient with Menkes diseaseKroepfl, T. / Mair, E. / Deutsch, J. / Brunner-Krainz, M. / Paschke, E. / Plecko, B. et al. | 2006
- 593
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Iliopsoas haematoma in Gaucher diseaseLešić, Aleksandar / Suvajdzic, Nada / Elezovic, Ivo / Bumbasirevic, Marko / Hadas-Halpern, Irith / Elstein, Deborah / Zimran, Ari et al. | 2006
- 594
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Lesch–Nyhan disease in a 20-year- old man incorrectly described as developing ‘cerebral palsy’ after general anaesthesia in infancyChiong, M. A. / Marinaki, A. / Duley, J. / Bennetts, B. / Ouvrier, R. / Christodoulou, J. et al. | 2006
- 595
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Cerebral atrophy after hyperammonaemic coma in a 23-year-old woman with OTC deficiencyMaillot, Francois et al. | 2006
- 597
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Renal function in tyrosinaemia type I after liver transplantation: A long‐term follow‐upPierik, L. J. W. M. / van Spronsen, F. J. / Bijleveld, C. M. A. / van Dael, C. M. L. et al. | 2006