A hypothesis on the biochemical mechanism of BH4-responsiveness in phenylalanine hydroxylase deficiency
Author:
Publisher
Springer Science and Business Media LLC
Subject
Organic Chemistry,Clinical Biochemistry,Biochemistry
Link
http://link.springer.com/content/pdf/10.1007/s00726-002-0354-0.pdf
Reference14 articles.
1. Davis MD, Parniak MA, Kaufman K, Kempner E (1996) Structurefunction relationships of phenylalanine hydroxylase revealed by radiation target analysis. Arch Biochem Biophys 325: 235–241
2. Davis MD, Parniak MA, Kaufman S, Kempner E (1997) The role of phenylalanine in structure-function relationships of phenylalanine hydroxylase revealed by radiation target analysis. Proc Natl Acad Sci USA 94: 491–495
3. Erlandsen H, Stevens RC (1999) The structural basis of phenylketonuria. Mol Genet Metab 68: 103–125
4. Erlandsen H, Stevens RC (2001) A structural hypothesis for BH4 responsiveness in patients with mild forms of hyperphenylalaninaemia and phenylketonuria. J Inherit Metab Dis 24: 213–230
5. Gregersen N, Bross P, Andresen BS, Pedersen CB, Corydon TJ, Bolund L (2001) The role of chaperone-assisted folding and quality control in inborn errors of metabolism: protein folding disorders. J Inherit Metab Dis 24: 189–212
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