טוען...
Saccharopinuria accompanied by hyperammonemia and hypercitrullinemia presented with elderly-onset epilepsy, progressive cognitive decline, and gait ataxia
We report a case of saccharopinuria with hyperammonemia and hypercitrullinemia in a Japanese woman who presented with elderly-onset epilepsy, progressive cognitive decline, and gait ataxia. Blood amino acid analysis revealed an increase in citrulline, cystine, and lysine levels, and urine amino acid...
שמור ב:
| הוצא לאור ב: | Intractable Rare Dis Res |
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| Main Authors: | , , , , , , , , , , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
International Research and Cooperation Association for Bio & Socio-Sciences Advancement
2021
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8122307/ https://ncbi.nlm.nih.gov/pubmed/33996359 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5582/irdr.2021.01003 |
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