Phenylketonuria
Tài liệu tham khảo
Smith, 1991, Review of neonatal screening programme for phenylketonuria, BMJ, 303, 333, 10.1136/bmj.303.6798.333
Lenke, 1980, Maternal phenylketonuria and hyperphenylalaninaemia. An international survey of the outcome of untreated and treated pregnancies, N Engl J Med, 303, 1202, 10.1056/NEJM198011203032104
1993, Phenylketonuria due to phenylalanine hydroxylase deficiency: an unfolding story, BMJ, 306, 115, 10.1136/bmj.306.6870.115
1993, Recommendations on the dietary management of phenylketonuria, Arch Dis Child, 68, 426, 10.1136/adc.68.3.426
Smith, 1995, Hyperphenylalaninaemias, 147
Smith, 1991, Disorders of amino acid metabolism, 105
Dixon, 1994, Disorders of amino acid metabolism, organic acidaemias and urea cycle defects, 177
Williams, 1995, Dopamine, dystonia and the deficient co-factor, Lancet, 345, 113, 10.1016/S0140-6736(95)90974-5
Tyfield, 1997, Sequence variation at the phenylalanine hydroxylase gene in the British Isles, Am J Hum Genet, 388
Smith, 1994, Treatment of phenylalanine hydroxylase deficiency, Acta Paediatr, 407, 60, 10.1111/j.1651-2227.1994.tb13453.x
Streetly, 1994, Variation in coverage by ethnic group of neonatal (Guthrie) screening programme in south London, BMJ, 309, 372, 10.1136/bmj.309.6951.372
Diamond, 1994, Phenylalanine levels of 4–6 mg/100 ml may not be as benign as once thought, Acta Paediatr, 407, 89, 10.1111/j.1651-2227.1994.tb13462.x
Diamond, 1996, Impaired sensitivity to visual contrast in children treated early and continuously for PKU, Brain, 119, 523, 10.1093/brain/119.2.523
Cleary, 1994, Magnetic resonance imaging of the brain in phenylketonuria, Lancet, 344, 87, 10.1016/S0140-6736(94)91281-5
Smith, 1990, Fetal damage due to maternal phenylketonuria: effects of dietary treatment and maternal phenylalanine concentrations around the time of conception, J Inherit Metab Dis, 13, 651, 10.1007/BF01799520
