## 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
✦ LIBER ✦
Molecular analysis and long-term follow-up of patients with different forms of 6-pyruvoyl-tetrahydropterin synthase deficiency
✍ Scribed by Dudešek, Aleš; Röschinger, Wulf; Muntau, Ania C.; Seidel, Jörg; Leupold, Dorothea; Thöny, Beat; Blau, Nenad
- Book ID
- 113042805
- Publisher
- Springer
- Year
- 2001
- Tongue
- English
- Weight
- 191 KB
- Volume
- 160
- Category
- Article
- ISSN
- 0340-6997
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