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Neurology|May 1, 1991
Biopterin-dependent hyperphenylalaninemia due to deficiency of 6-pyruvoyl tetrahydropterin synthaseA al Aqeel, P T Ozand, G Gascon, et al.
Clinical Genetics|July 29, 2018
Mutations in known disease genes account for the majority of autosomal recessive retinal dystrophiesN Patel, H Alkuraya, S S Alzahrani, et al.
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