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Long-term follow-up of Chinese patients who received delayed treatment for 6-pyruvoyl-tetrahydropterin synthase deficiency

✍ Scribed by Ni-Chung Lee; Ling-Yee Cheng; Tze-Tze Liu; Kwang-Jen Hsiao; Pao-Chin Chiu; Dau-Ming Niu

Book ID
116987762
Publisher
Elsevier Science
Year
2006
Tongue
English
Weight
280 KB
Volume
87
Category
Article
ISSN
1096-7192

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Long-term follow-up and adult outcome of
Long-term follow-up and adult outcome of 6-pyruvoyl-tetrahydropterin synthase deficiency
✍ Emmanuel Roze; Marie Vidailhet; Nenad Blau; Lisbeth Birk Moller; Diane Doummar; 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 96 KB

## Abstract Little information is available on the long‐term course and adult outcome of patients with 6‐pyruvoyl‐tetrahydropterin synthase (PTPS) deficiency. We describe the course of a 32‐year‐old woman with hypotonia, dystonia, choreoathetosis, mental retardation, behavioral disturbances, and in