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Late-onset symptomatic hyperprolactinemia in 6-pyruvoyl-tetrahydropterin synthase deficiency

BACKGROUND: Tetrahydrobiopterin (BH(4)) deficiency caused by 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency is a rare disorder that is one of the major causes of hyperphenylalaninemia in Taiwan. METHODS: In this study, we reviewed the clinical courses of 12 adolescent and adult patients (7 f...

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Detalles Bibliográficos
Autores principales: Hsu, Rai-Hseng, Lee, Ni-Chung, Chen, Hui-An, Hwu, Wuh-Liang, Chang, Tung-Ming, Chien, Yin-Hsiu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10636984/
https://www.ncbi.nlm.nih.gov/pubmed/37950276
http://dx.doi.org/10.1186/s13023-023-02963-4