共 211 条
[1]
Vockley J(2014)Phenylalanine hydroxylase deficiency: diagnosis and management guideline Genet Med 16 188-200
[2]
Andersson HC(2013)Fluctuations in phenylalanine concentrations in phenylketonuria: a review of possible relationships with outcomes Mol Genet Metab 110 418-423
[3]
Antshel KM(2017)The complete European guidelines on phenylketonuria: diagnosis and treatment Orphanet J Rare Dis. 12 162-54
[4]
Braverman NE(1999)Rationale for the German recommendations for phenylalanine level control in phenylketonuria 1997 Eur J Pediatr 158 46-707
[5]
Burton BK(2007)The response of patients with phenylketonuria and elevated serum phenylalanine to treatment with oral sapropterin dihydrochloride (6R-tetrahydrobiopterin): a phase II, multicentre, open-label, screening study J Inherit Metab Dis 30 700-707
[6]
Frazier DM(2009)Efficacy of sapropterin dihydrochloride in increasing phenylalanine tolerance in children with phenylketonuria: a phase III, randomized, double-blind, placebo-controlled study J Pediatr 154 700-S418
[7]
Cleary M(2008)Quality of life in noncompliant adults with phenylketonuria after resumption of the diet J Inherit Metab Dis 31 S415-38
[8]
Trefz F(2018)Pegvaliase for the treatment of phenylketonuria: results of a long-term phase 3 clinical trial program (PRISM) Mol Genet Metab 124 27-57
[9]
Muntau AC(2002)How practical are recommendations for dietary control in phenylketonuria? Lancet 360 55-150
[10]
Feillet F(2015)Vitamin and mineral status in patients with hyperphenylalaninemia Mol Genet Metab 115 145-48