Basal ganglion calcification in hyperphenylalaninemia due to deficiency of dihydropteridine reductase

Author:

Schmidt H.,Ullrich K.,Korinthenberg R.,Peters P. E.

Publisher

Springer Science and Business Media LLC

Subject

Radiology, Nuclear Medicine and imaging,Pediatrics, Perinatology and Child Health

Reference29 articles.

1. Tourian A, Sidbury JB (1983) Phenylketonuria and hyperphenylalaninemia. In: Stanbury JB, Wyngaarden JB, Fredrickson DS, Goldstein J, Brown MS (eds) The metabolic basis of inherited disease, 5th edn. Mc Graw-Hill, New York, p 270

2. Adams RD, Victor MV (1985) Abnormalities of movement and posture due to disease of the extrapyramidal motor system. In: Adams RD, Victor MV (eds) Principles of neurology, 3rd edn. Mc Graw-Hill, New York, p 53

3. Friedman PA, Kappelman AH, Kaufman S (1972) Partial purification and characterization of tryptophan hydroxylase from rabbit hindbrain. J Biol Chem 247: 4165

4. Kaufman S (1986) Unsolved problems in diagnosis and therapy of hyperphenylalaninemia caused by defects in tetrahydrobiopterin metabolism. J Pediatr 109: 572

5. Bartholomé K, Byrd DJ, Kaufman S, Milstien S (1977) Atypical phenylketonuria with normal phenylalanin hydroxylase and dihydropteridin reductase activity in vitro. Pediatrics 59: 757

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