Article
Molecular analysis and long-term follow-up of patients with different forms of 6-pyruvoyl-tetrahydropterin synthase deficiency.
European journal of pediatrics - 1 May 2001
Dudesek A, Röschinger W, Muntau A C, Seidel J, Leupold D, Thöny B, Blau N
Abstract excerpt
UNLABELLED: The outcome of 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency, the most common form of tetrahydrobiopterin (BH4) deficiency, depends on factors such as severity of the disease, type of mutation, time of diagnosis, and mode of treatment. We investigated five patients from four different families, four of them presenting with the severe form of PTPS deficiency and one with the mild peripheral...
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