-
1
-
-
34848850451
-
The PAH gene, phenylketonuria, and a paradigm shift
-
Scriver CR. The PAH gene, phenylketonuria, and a paradigm shift. Hum Mutat. 2007;28(9):831-845.
-
(2007)
Hum Mutat
, vol.28
, Issue.9
, pp. 831-845
-
-
Scriver, C.R.1
-
2
-
-
0029786950
-
The influence of mutations on enzyme activity and phenylalanine tolerance in phenylalanine hydroxylase deficiency
-
Guttler F, Guldberg P. The influence of mutations on enzyme activity and phenylalanine tolerance in phenylalanine hydroxylase deficiency. Eur J Pediatr. 1996;155(suppl 1):S6-S10.
-
(1996)
Eur J Pediatr
, vol.155
, Issue.SUPPL. 1
-
-
Guttler, F.1
Guldberg, P.2
-
3
-
-
0034790129
-
-
National Institutes of Health Consensus Development Conference Statement. Phenylketonuria: screening and management, October 16-18, 2000. Pediatrics. 2001;108(4):972-982. http://consensus. nih.gov/2000/ 2000Phenylketonuria113html.htm.
-
National Institutes of Health Consensus Development Conference Statement. Phenylketonuria: screening and management, October 16-18, 2000. Pediatrics. 2001;108(4):972-982. http://consensus. nih.gov/2000/ 2000Phenylketonuria113html.htm.
-
-
-
-
4
-
-
34548416775
-
-
Waisbren SE, Noel K, Fahrbach K, et al. Phenylalanine blood levels and clinical outcomes in phenylketonuria: a systematic literature review and metaanalysis. Mol Genet Metab. June 23, 2007. (ahead of print)
-
Waisbren SE, Noel K, Fahrbach K, et al. Phenylalanine blood levels and clinical outcomes in phenylketonuria: a systematic literature review and metaanalysis. Mol Genet Metab. June 23, 2007. (ahead of print)
-
-
-
-
5
-
-
2942585422
-
Prevalence of stimulant use for attentional dysfunction in children with phenylketonuria
-
Arnold GL, Vladutiu CJ, Orlowski CC, Blakely EM, DeLuca J. Prevalence of stimulant use for attentional dysfunction in children with phenylketonuria. J Inherit Metab Dis. 2004;27(2):137-143.
-
(2004)
J Inherit Metab Dis
, vol.27
, Issue.2
, pp. 137-143
-
-
Arnold, G.L.1
Vladutiu, C.J.2
Orlowski, C.C.3
Blakely, E.M.4
DeLuca, J.5
-
6
-
-
34347340654
-
Executive functioning in children and adolescents with phenylketonuria
-
VanZutphen KH, Packman W, Sporri L, et al. Executive functioning in children and adolescents with phenylketonuria. Clin Genet. 2007;72(1):13-18.
-
(2007)
Clin Genet
, vol.72
, Issue.1
, pp. 13-18
-
-
VanZutphen, K.H.1
Packman, W.2
Sporri, L.3
-
7
-
-
34250023212
-
Meta-analysis of neuropsychological symptoms of adolescents and adults with PKU
-
Moyle JJ, Fox AM, Arthur M, Bynevelt M, Burnett JR. Meta-analysis of neuropsychological symptoms of adolescents and adults with PKU. Neuropsychol Rev. 2007;17(2):91-101.
-
(2007)
Neuropsychol Rev
, vol.17
, Issue.2
, pp. 91-101
-
-
Moyle, J.J.1
Fox, A.M.2
Arthur, M.3
Bynevelt, M.4
Burnett, J.R.5
-
8
-
-
0036744719
-
Phenylke-tonuria in adulthood: A collaborative study
-
Koch R, Burton B, Hoganson G, et al. Phenylke-tonuria in adulthood: a collaborative study. J Inherit Metab Dis. 2002;25(5):333-346.
-
(2002)
J Inherit Metab Dis
, vol.25
, Issue.5
, pp. 333-346
-
-
Koch, R.1
Burton, B.2
Hoganson, G.3
-
9
-
-
0025826561
-
Agoraphobia in phenylke-tonuria
-
Waisbren SE, Levy HL. Agoraphobia in phenylke-tonuria. J Inherit Metab Dis. 1991;14(5):755- 764.
-
(1991)
J Inherit Metab Dis
, vol.14
, Issue.5
, pp. 755-764
-
-
Waisbren, S.E.1
Levy, H.L.2
-
10
-
-
25144483400
-
Living with phenylketonuria: Perspectives of patients and their families
-
Bilginsoy C, Waitzman N, Leonard CO, Ernst SL. Living with phenylketonuria: perspectives of patients and their families. J Inherit Metab Dis. 2005;28(5):639-649.
-
(2005)
J Inherit Metab Dis
, vol.28
, Issue.5
, pp. 639-649
-
-
Bilginsoy, C.1
Waitzman, N.2
Leonard, C.O.3
Ernst, S.L.4
-
11
-
-
0018867418
-
Diet discontinuation policies and practices of PKU clinics in the United States
-
Schuett VE, Gurda RF, Brown ES. Diet discontinuation policies and practices of PKU clinics in the United States. Am J Public Health. 1980;70(5):498- 503.
-
(1980)
Am J Public Health
, vol.70
, Issue.5
, pp. 498-503
-
-
Schuett, V.E.1
Gurda, R.F.2
Brown, E.S.3
-
12
-
-
0037031064
-
How practical are recommendations for dietary control in phenylke-tonuria?
-
Walter JH, White FJ, Hall SK, et al. How practical are recommendations for dietary control in phenylke-tonuria? Lancet. 2002;360:55-57.
-
(2002)
Lancet
, vol.360
, pp. 55-57
-
-
Walter, J.H.1
White, F.J.2
Hall, S.K.3
-
13
-
-
1942540768
-
Iron status of children with phenylke-tonuria undergoing nutrition therapy assessed by transferrin receptors
-
Acosta PB, Yannicelli S, Singh RH, Elsas LJ II, Mofidi S, Steiner RD. Iron status of children with phenylke-tonuria undergoing nutrition therapy assessed by transferrin receptors. Genet Med. 2004;6(2):96-101.
-
(2004)
Genet Med
, vol.6
, Issue.2
, pp. 96-101
-
-
Acosta, P.B.1
Yannicelli, S.2
Singh, R.H.3
Elsas II, L.J.4
Mofidi, S.5
Steiner, R.D.6
-
14
-
-
0027393294
-
Low iron stores in infants and children with treated phenylketonuria: A population at risk for iron-deficiency anaemia and associated cognitive deficits
-
Bodley JL, Austin VJ, Hanley WB, Clarke JT, Zlotkin S. Low iron stores in infants and children with treated phenylketonuria: a population at risk for iron-deficiency anaemia and associated cognitive deficits. Eur J Pediatr. 1993;152(2):140-143.
-
(1993)
Eur J Pediatr
, vol.152
, Issue.2
, pp. 140-143
-
-
Bodley, J.L.1
Austin, V.J.2
Hanley, W.B.3
Clarke, J.T.4
Zlotkin, S.5
-
15
-
-
0029786263
-
Nutrition studies in treated infants and children with phenylketonuria: Vitamins, minerals, trace elements
-
Acosta PB. Nutrition studies in treated infants and children with phenylketonuria: vitamins, minerals, trace elements. Eur J Pediatr. 1996;155(suppl 1):S136-S139.
-
(1996)
Eur J Pediatr
, vol.155
, Issue.SUPPL. 1
-
-
Acosta, P.B.1
-
16
-
-
0019940403
-
Zinc status in growth of children undergoing treatment for phenylketonuria
-
Acosta PB, Fernhoff PM, Warshaw HS, et al. Zinc status in growth of children undergoing treatment for phenylketonuria. J Inherit Metab Dis. 1982;5(2):107-110.
-
(1982)
J Inherit Metab Dis
, vol.5
, Issue.2
, pp. 107-110
-
-
Acosta, P.B.1
Fernhoff, P.M.2
Warshaw, H.S.3
-
18
-
-
34250017342
-
Dietary long-chain polyunsaturated fatty acid supplementation in infants with phenylketonuria: A randomized controlled trial
-
Koletzko B, Sauerwald T, Demmelmair H, et al. Dietary long-chain polyunsaturated fatty acid supplementation in infants with phenylketonuria: a randomized controlled trial. J Inherit Metab Dis. 2007;30(3):326-332.
-
(2007)
J Inherit Metab Dis
, vol.30
, Issue.3
, pp. 326-332
-
-
Koletzko, B.1
Sauerwald, T.2
Demmelmair, H.3
-
19
-
-
25844509266
-
Fat intakes of children with PKU on low phenylala-nine diets
-
Rose HJ, White F, Macdonald A, Rutherford PJ, Favre E. Fat intakes of children with PKU on low phenylala-nine diets. J Hum Nutr Diet. 2005;18(5):395-400.
-
(2005)
J Hum Nutr Diet
, vol.18
, Issue.5
, pp. 395-400
-
-
Rose, H.J.1
White, F.2
Macdonald, A.3
Rutherford, P.J.4
Favre, E.5
-
20
-
-
0028154021
-
Decreased bone mineral density in children with phenylketonuria
-
Allen JR, Humphries IR, Waters DL. Decreased bone mineral density in children with phenylketonuria. Am J Clin Nutr. 1994;59(2):419-422.
-
(1994)
Am J Clin Nutr
, vol.59
, Issue.2
, pp. 419-422
-
-
Allen, J.R.1
Humphries, I.R.2
Waters, D.L.3
-
21
-
-
0036344267
-
New approach to osteopenia in phenylketonuric patients
-
Pérez-Dueñas B, Cambra FJ, Vilaseca MA, Lambrus-chini N, Campistol J, Camacho JA. New approach to osteopenia in phenylketonuric patients. Acta Paediatr. 2002;91(8):899-904.
-
(2002)
Acta Paediatr
, vol.91
, Issue.8
, pp. 899-904
-
-
Pérez-Dueñas, B.1
Cambra, F.J.2
Vilaseca, M.A.3
Lambrus-chini, N.4
Campistol, J.5
Camacho, J.A.6
-
23
-
-
67650241625
-
-
Burton B, Singh R. Paper presented at: American College Medical Genetics Annual Meeting; March 21-25, 2007. Abstract 310.
-
Burton B, Singh R. Paper presented at: American College Medical Genetics Annual Meeting; March 21-25, 2007. Abstract 310.
-
-
-
-
24
-
-
0026031086
-
Effect of simultaneous inges-tion of l-amino acids and whole protein on plasma amino acid and urea nitrogen concentrations in humans
-
Gropper SS, Acosta PB. Effect of simultaneous inges-tion of l-amino acids and whole protein on plasma amino acid and urea nitrogen concentrations in humans. J Parenter Enteral Nutr. 1991;15(1):48-53.
-
(1991)
J Parenter Enteral Nutr
, vol.15
, Issue.1
, pp. 48-53
-
-
Gropper, S.S.1
Acosta, P.B.2
-
25
-
-
0036830284
-
Which weight for weight-based dosage regimens in obese patients?
-
Erstad B. Which weight for weight-based dosage regimens in obese patients? Am J Health Syst Pharm. 2002;59:2105-2110.
-
(2002)
Am J Health Syst Pharm
, vol.59
, pp. 2105-2110
-
-
Erstad, B.1
-
26
-
-
67650220803
-
-
PKU-005 Clinical Study Report. Novato, CA: BioMarin Pharmaceutical Inc; May 10, 2006.
-
PKU-005 Clinical Study Report. Novato, CA: BioMarin Pharmaceutical Inc; May 10, 2006.
-
-
-
-
27
-
-
36148953590
-
Recommendation for evaluation of responsiveness to tetrahydrobiopterin (BH4) in phenylke-tonuria and its use in treatment, molecular genetic metabolism
-
Levy HL. Recommendation for evaluation of responsiveness to tetrahydrobiopterin (BH4) in phenylke-tonuria and its use in treatment, molecular genetic metabolism. Mol Genet Metab. 2007;92:287-291.
-
(2007)
Mol Genet Metab
, vol.92
, pp. 287-291
-
-
Levy, H.L.1
-
28
-
-
84869372262
-
-
Updated August 25, 2004. Accessed August 28, 2007
-
Dietary Reference Intakes, NIH Office of Dietary Supplements. http://dietary-supplements.info.nih.gov/ Health-Information/Dietary-Reference- Intakes.aspx. Updated August 25, 2004. Accessed August 28, 2007.
-
Dietary Reference Intakes, NIH Office of Dietary Supplements
-
-
-
29
-
-
33745790867
-
Protein substitute dosage in PKU: How much do young patients need?
-
MacDonald A, Chakrapani A, Hendriksz C, et al. Protein substitute dosage in PKU: how much do young patients need? Arch Dis Child. 2006;91(7):588-593.
-
(2006)
Arch Dis Child
, vol.91
, Issue.7
, pp. 588-593
-
-
MacDonald, A.1
Chakrapani, A.2
Hendriksz, C.3
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