Hereditary orotic aciduria with epilepsy and without megaloblastic anemia
<p>Hereditary orotic aciduria is a rare metabolic disease that results from a defect of uridine-5-monophosphate synthase (UMPS). In affected patients, main clinical symptoms are a markedly increased urinary excretion of orotic acid combined with megaloblastic anemia. This report describes a ne...
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| Hauptverfasser: | , |
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| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
2015, Mar 10
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| In: |
Neuropediatrics
Year: 2015, Jahrgang: 46, Heft: 02, Pages: 123-125 |
| ISSN: | 1439-1899 |
| DOI: | 10.1055/s-0035-1547341 |
| Online-Zugang: | Verlag, Volltext: http://dx.doi.org/10.1055/s-0035-1547341 Verlag, Volltext: http://www.thieme-connect.de/DOI/DOI?10.1055/s-0035-1547341 
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| Verfasserangaben: | Karina Grohmann, Heinz Lauffer, Peter Lauenstein, Georg F. Hoffmann, Günter Seidlitz |
| Zusammenfassung: | <p>Hereditary orotic aciduria is a rare metabolic disease that results from a defect of uridine-5-monophosphate synthase (UMPS). In affected patients, main clinical symptoms are a markedly increased urinary excretion of orotic acid combined with megaloblastic anemia. This report describes a new case of UMPS deficiency without megaloblastic anemia but with epilepsy.</p> |
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| Beschreibung: | Gesehen am 28.07.2017 |
| Beschreibung: | Online Resource |
| ISSN: | 1439-1899 |
| DOI: | 10.1055/s-0035-1547341 |