Clinical and neurocognitive outcome in symptomatic isovaleric acidemia
Despite its first description over 40 years ago, knowledge of the clinical course of isovaleric acidemia (IVA), a disorder predisposing to severe acidotic episodes during catabolic stress, is still anecdotal. We aimed to investigate the phenotypic presentation and factors determining the neurologica...
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| Hauptverfasser: | , , |
|---|---|
| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
2012
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| In: |
Orphanet journal of rare diseases
Year: 2012, Jahrgang: 7 |
| ISSN: | 1750-1172 |
| DOI: | 10.1186/1750-1172-7-9 |
| Online-Zugang: | Verlag, kostenfrei, Volltext: http://dx.doi.org/10.1186/1750-1172-7-9 Verlag, kostenfrei, Volltext: https://doi.org/10.1186/1750-1172-7-9 
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| Verfasserangaben: | Sarah C. Grünert, Udo Wendel, Martin Lindner, Michael Leichsenring, K. Otfried Schwab, Jerry Vockley, Willy Lehnert and Regina Ensenauer |
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| 245 | 1 | 0 | |a Clinical and neurocognitive outcome in symptomatic isovaleric acidemia |c Sarah C. Grünert, Udo Wendel, Martin Lindner, Michael Leichsenring, K. Otfried Schwab, Jerry Vockley, Willy Lehnert and Regina Ensenauer |
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| 520 | |a Despite its first description over 40 years ago, knowledge of the clinical course of isovaleric acidemia (IVA), a disorder predisposing to severe acidotic episodes during catabolic stress, is still anecdotal. We aimed to investigate the phenotypic presentation and factors determining the neurological and neurocognitive outcomes of patients diagnosed with IVA following clinical manifestation. | ||
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