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EnglishHyperprolinemia type I (HPI) is a rare and inherited autosomal recessive disorder caused by proline oxidase deficiency. Hyperprolinemia type 1 is biochemically defined as high plasma proline levels without urinary Δ-1-pyrroline-5-carboxylate excretion. Hyperprolinemia type 1 has been considered a benign metabolic disorder, but a relationship with neurological disorders has recently been suggested.
| Titolo: | Hyperprolinemia type IA: benign metabolic anomaly or a trigger for brain dysfunction? |
| Autori interni: | |
| Data di pubblicazione: | 2017 |
| Rivista: | |
| Abstract: | Hyperprolinemia type I (HPI) is a rare and inherited autosomal recessive disorder caused by proline oxidase deficiency. Hyperprolinemia type 1 is biochemically defined as high plasma proline levels without urinary Δ-1-pyrroline-5-carboxylate excretion. Hyperprolinemia type 1 has been considered a benign metabolic disorder, but a relationship with neurological disorders has recently been suggested. |
| Handle: | http://hdl.handle.net/20.500.11769/363403 |
| Appare nelle tipologie: | 1.1 Articolo in rivista |
File in questo prodotto:
| File | Descrizione | Tipologia | Licenza | |
|---|---|---|---|---|
| Hyperprolinemia Type IA Benign metabolic anomaly or a tigger for brain dysfunction.pdf | Versione Editoriale (PDF) | Open Access Visualizza/Apri |
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