Glutaric aciduria type I: outcome following detection by newborn screening (English)
- New search for: Bijarnia, S.
- New search for: Wiley, V.
- New search for: Carpenter, K.
- New search for: Christodoulou, J.
- New search for: Ellaway, C. J.
- New search for: Wilcken, B.
- New search for: Bijarnia, S.
- New search for: Wiley, V.
- New search for: Carpenter, K.
- New search for: Christodoulou, J.
- New search for: Ellaway, C. J.
- New search for: Wilcken, B.
In:
JOURNAL OF INHERITED METABOLIC DISEASE
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31
, 4
;
503-507
;
2008
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ISSN:
- Article (Journal) / Print
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Title:Glutaric aciduria type I: outcome following detection by newborn screening
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Contributors:Bijarnia, S. ( author ) / Wiley, V. ( author ) / Carpenter, K. ( author ) / Christodoulou, J. ( author ) / Ellaway, C. J. ( author ) / Wilcken, B. ( author )
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Published in:JOURNAL OF INHERITED METABOLIC DISEASE ; 31, 4 ; 503-507
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Publisher:
- New search for: Springer Science + Business Media
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Publication date:2008-01-01
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Size:5 pages
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ISSN:
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Type of media:Article (Journal)
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Type of material:Print
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Language:English
- New search for: 616.39
- Further information on Dewey Decimal Classification
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Classification:
DDC: 616.39 -
Source:
© Metadata Copyright the British Library Board and other contributors. All rights reserved.
Table of contents – Volume 31, 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.
- 473
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Neurological findings in Hunter disease: Pathology and possible therapeutic effects reviewedAl Sawaf, S. / Mayatepek, E. / Hoffmann, B. et al. | 2008
- 481
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Human carbamoyl‐phosphate synthetase: Insight into N‐acetylglutamate interaction and the functional effects of a common single nucleotide polymorphismAhuja, V. / Powers‐Lee, S. G. et al. | 2008
- 492
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Profiling of astrocyte properties in the hyperammonaemic brain: Shedding new light on the pathophysiology of the brain damage in hyperammonaemiaLichter‐Konecki, U. et al. | 2008
- 503
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Glutaric aciduria type I: outcome following detection by newborn screeningBijarnia, S. / Wiley, V. / Carpenter, K. / Christodoulou, J. / Ellaway, C. J. / Wilcken, B. et al. | 2008
- 508
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Abnormal expression and processing of uromodulin in Fabry disease reflects tubular cell storage alteration and is reversible by enzyme replacement therapyVylet'al, P. / Hůlková, H. / Živná, M. / Berná, L. / Novák, P. / Elleder, M. / Kmoch, S. et al. | 2008
- 518
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Neurocognitive testing in late‐onset Tay–Sachs disease: A pilot studyElstein, D. / Doniger, G. M. / Simon, E. / Korn‐Lubetzki, I. / Navon, R. / Zimran, A. et al. | 2008
- 524
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Correlates of language impairment in children with galactosaemiaPotter, N. L. / Lazarus, J.‐A. C. / Johnson, J. M. / Steiner, R. D. / Shriberg, L. D. et al. | 2008
- 533
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FDG‐PET findings in patients with galactosaemiaDubroff, J. G. / Ficicioglu, C. / Segal, S. / Wintering, N. A. / Alavi, A. / Newberg, A. B. et al. | 2008
- 540
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Recurrent acute liver failure and mitochondriopathy in a case of Wolcott–Rallison syndromeEngelmann, G. / Meyburg, J. / Shahbek, N. / Al‐Ali, M. / Hairetis, M. H. / Baker, A. J. / Rodenburg, R. J. T. / Wenning, D. / Flechtenmacher, C. / Ellard, S. et al. | 2008
- 550
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Detection of urinary hexanoylglycine in the diagnosis of MCAD deficiency from newborn screeningDowning, M. / Manning, N. J. / Dalton, R. N. / Krywawych, S. / Oerton, J. et al. | 2008