Abnormalities of tetrahydrobiopterin metabolism
Tetrahydrobiopterin (BH4) deficiencies result in insufficient synthesis of the monoamine neurotransmitters dopamine and serotonin, and may present with hyperphenylalaninemia (HPA). Defects of BH4 metabolism comprise a group of treatable pediatric neurotransmitter disorders. Without early diagnosis…...
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| Hauptverfasser: | , |
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| Dokumenttyp: | Article (Journal) Kapitel/Artikel |
| Sprache: | Englisch |
| Veröffentlicht: |
05.30.2023
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| In: |
MedLink neurology
Year: 2023, Pages: ? |
| ISSN: | 2831-9125 |
| Online-Zugang: | Verlag, lizenzpflichtig, Volltext: https://www.medlink.com/articles/abnormalities-of-tetrahydrobiopterin-metabolism
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| Verfasserangaben: | authors Georg F Hoffmann MD, Oya Kuseyri Hübschmann MD |
| Zusammenfassung: | Tetrahydrobiopterin (BH4) deficiencies result in insufficient synthesis of the monoamine neurotransmitters dopamine and serotonin, and may present with hyperphenylalaninemia (HPA). Defects of BH4 metabolism comprise a group of treatable pediatric neurotransmitter disorders. Without early diagnosis… |
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| Beschreibung: | Gesehen am 31.08.2023 |
| Beschreibung: | Online Resource |
| ISSN: | 2831-9125 |