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

Abstract Background Tetrahydrobiopterin (BH4) 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...

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Principais autores:	Rai-Hseng Hsu, Ni-Chung Lee, Hui-An Chen, Wuh-Liang Hwu, Tung-Ming Chang, Yin-Hsiu Chien
Formato:	Artigo
Idioma:	Inglês
Publicado:	BMC 2023-11-01
Series:	Orphanet Journal of Rare Diseases
Assuntos:	Tetrahydrobiopterin deficiency BH4 6-Pyruvoyl-tetrahydropterin synthase deficiency PTPS Hyperphenylalaninemia Hyperprolactinemia
Acceso en liña:	https://doi.org/10.1186/s13023-023-02963-4
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