The effects of large neutral amino acid supplements in PKU: An MRS and neuropsychological study

Molecular Genetics and Metabolism - Tập 91 - Trang 48-54 - 2007
Suzanne Schindeler1, Suparna Ghosh-Jerath1, Susan Thompson1, Antonella Rocca2, Pamela Joy2,3, Allan Kemp4, Caroline Rae5, Kathryn Green1, Bridget Wilcken1,6, John Christodoulou1,6
1Western Sydney Genetics Program, The Children’s Hospital at Westmead, Sydney, Australia
2Developmental Cognitive Neuropsychology Research Unit, Macquarie Centre for Cognitive Science, Macquarie University, Sydney, Australia
3Child Development Unit, Children’s Hospital at Westmead, Sydney, Australia
4Medical Imaging Department, The Children’s Hospital at Westmead, Sydney, Australia
5Prince of Wales Medical Research Institute, University of NSW, Sydney, Australia
6Discipline of Paediatrics and Child Health, University of Sydney, Sydney, Australia

Tài liệu tham khảo

Jervis, 1953, Phenylpyruvic oligophrenia (phenylketonuria), Res. Public Assoc. Res. Nerv. Ment. Disord., 33, 259 Azen, 1991, Intellectual development in 12-year-old children treated for phenylketonuria, Am. J. Dis. Child., 145, 35 Waisbren, 1994, Review of neuropsychological functioning in treated phenylketonuria: an information processing approach, Acta Paediatr., 407, 98, 10.1111/j.1651-2227.1994.tb13464.x Burgard, 1997, Neuropsychologic functions of early treated patients with phenylketonuria, on and off diet: results of a cross-national and cross-sectional study, Pediatr. Res., 41, 368, 10.1203/00006450-199703000-00011 Schmidt, 1996, Effects of concurrent phenylalanine levels on sustained attention and calculation speed in patients treated early for phenylketonuria, Eur. J. Pediatr., 155, S82, 10.1007/PL00014258 Clarke, 1987, Neuropsychological studies on adolescents with phenylketonuria returned to phenylalanine-restricted diets, Am. J. Ment. Retard., 92, 255 Smith, 2000, Behaviour in early treated phenylketonuria: a systematic review, Eur. J. Pediatr., 159, S94 Koch, 2000, Benefits of mutation analysis and examination of brain Phenylalanine levels in the management of Phenylketonuria, J. Pediatr., 106, 1136, 10.1542/peds.106.5.1136 Koch, 2000, Blood–brain phenylalanine relationships in persons with phenylketonuria, Pediatrics, 106, 1093, 10.1542/peds.106.5.1093 Moller, 2000, In vivo proton magnetic resonance spectroscopy in phenylketonuria, Eur. J. Pediatr., 159, S121, 10.1007/PL00014374 Weglage, 2002, Individual blood–brain barrier phenylalanine transport in siblings with classical phenylketonuria, J. Inherit. Metab. Dis., 25, 431, 10.1023/A:1021234730512 Moats, 2003, Brain phenylalanine concentrations in phenylketonuria: research and treatment of adults, Pediatrics, 112, 1575, 10.1542/peds.112.S4.1575 Koch, 2003, Large neutral amino acid therapy and phenylketonuria: a promising approach to treatment, Mol. Genet. Metab., 79, 110, 10.1016/S1096-7192(03)00078-7 Pietz, 1999, Large neutral amino acids block phenylalanine transport into brain tissue in patients with phenylketonuria, J. Clin. Invest., 103, 1169, 10.1172/JCI5017 Berry, 1990, Valine, Isoleucine, and Leucine – a new treatment for Phenylketonuria, Am. J. Dis. Child., 144, 539, 10.1001/archpedi.1990.02150290033020 Commonwealth Dept of Community Services and Health, NUTTAB89 Nutrient data table for use in Australia, Canberra, Australian Government Publishing Service, 1989. Paul, 1978 Wechsler Abbreviated Scale of Intelligence, The Psychological Corporation, San Antonio, TX, 1999. C.K. Conners, Multi-Health Systems Staff, Conners’ Continuous Performance Test, Multi-Health Systems, Toronto, 1995. CANTAB for Windows, CeNeS Ltd. CeNeS, Cambridge, 1999. Delis, 2001 Lovibond, 1995 Naressi, 2001, Java-based graphical user interface for the MRUI quantitation package, Magma, 12, 141, 10.1007/BF02668096 Vanhamme, 1997, Improved method for accurate and efficient quantification of MRS data with use of prior knowledge, J. Magn. Reson., 129, 35, 10.1006/jmre.1997.1244 Pijnappel, 1992, SVD-based quantification of magnetic resonance signals, J. Magn. Reson., 97, 122 Moller, 1997, Kinetics of phenylalanine transport at the human blood–brain barrier investigated in vivo, Brain Res., 329, 10.1016/S0006-8993(97)01054-8 Black, 2000, Critical evaluation of energy intake using the Goldeberg cut-off for energy intake:basal metabolic rate. A practical guide to its calculation, Int. J. Obes., 24, 1119, 10.1038/sj.ijo.0801376 Moats, 2000, Brain phenylalanine concentration in the management of adults with phenylketonuria, J. Inher. Metab. Dis., 23, 7, 10.1023/A:1005638627604 Brumm, 2004, Neuropsychological outcome of subjects participating in the PKU adult collaborative study: a preliminary review, J. Inherit. Metab. Dis., 27, 549, 10.1023/B:BOLI.0000042985.02049.ff Berger, 2000, Transport mechanisms of the large neutral amino acid l-phenylalanine in the human intestinal epithelial Caco-2 Cell Line, J. Nutr., 130, 2780, 10.1093/jn/130.11.2780 Matalon, 2006, Large neutral amino acids in the treatment of phenylketonuria (PKU), J. Inherit. Metab. Dis., 29, 732, 10.1007/s10545-006-0395-8
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Molecular Genetics and Metabolism

Tập 91

48-54

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