-
1
-
-
0028702904
-
The discovery of phenylketonuria
-
Folling I (1994) The discovery of phenylketonuria. Acta Paediatr Suppl 407:4-10
-
(1994)
Acta Paediatr Suppl
, vol.407
, pp. 4-10
-
-
Folling, I.1
-
2
-
-
0028567120
-
-
Maternal Phenylketonuria Collaborative Study: a status report
-
The Maternal Phenylketonuria Collaborative Study: a status report (1994) Nutr Rev 52:390-393
-
(1994)
Nutr Rev
, vol.52
, pp. 390-393
-
-
-
3
-
-
0023926724
-
Long-term development of intelligence (IQ) and EEG in 34 children with phenylketonuria treated early
-
Pietz J, Benninger C, Schmidt H et al (1988) Long-term development of intelligence (IQ) and EEG in 34 children with phenylketonuria treated early. Eur J Pediatr 147:361-367
-
(1988)
Eur J Pediatr
, vol.147
, pp. 361-367
-
-
Pietz, J.1
Benninger, C.2
Schmidt, H.3
-
4
-
-
0033830959
-
Comments on in vivo proton magnetic resonance spectroscopy in phenylketonuria
-
Kreis R (2000) Comments on in vivo proton magnetic resonance spectroscopy in phenylketonuria. Eur J Pediatr 159 [Suppl 2]: S126-S128
-
(2000)
Eur J Pediatr
, vol.159
, Issue.SUPPL. 2
-
-
Kreis, R.1
-
5
-
-
0032231461
-
A European Multicenter Study of Phenylalanine Hydroxylase Deficiency: Classification of 105 mutations and a general system for genotype-based pre diction of metabolic phenotype
-
Guldberg P, Rey F, Zschocke J et al (1998) A European Multicenter Study of Phenylalanine Hydroxylase Deficiency: Classification of 105 mutations and a general system for genotype-based pre diction of metabolic phenotype. Am J Hum Genet 63:71-79
-
(1998)
Am J Hum Genet
, vol.63
, pp. 71-79
-
-
Guldberg, P.1
Rey, F.2
Zschocke, J.3
-
6
-
-
0028029176
-
Relation between phenylalanine hydroxylase genotypes and phenotypic parameters of diagnosis and treatment of hyperphenylalani naemic disorders. German Collaborative Study of PKU
-
Lichter Konecki U, Rupp A, Konecki DS et al (1994) Relation between phenylalanine hydroxylase genotypes and phenotypic parameters of diagnosis and treatment of hyperphenylalani naemic disorders. German Collaborative Study of PKU. J Inherit Metab Dis 17:362-365
-
(1994)
J Inherit Metab Dis
, vol.17
, pp. 362-365
-
-
Konecki, U.L.1
Rupp, A.2
Konecki, D.S.3
-
7
-
-
0016707505
-
Determination of phenylalanine hydroxylase activity in patients with phenylketonuria and hyperphenylalaninemia
-
Bartholome K, Lutz P, Bickel H (1975) Determination of phenylalanine hydroxylase activity in patients with phenylketonuria and hyperphenylalaninemia. Pediatr Res 9:899-903
-
(1975)
Pediatr Res
, vol.9
, pp. 899-903
-
-
Bartholome, K.1
Lutz, P.2
Bickel, H.3
-
8
-
-
0019860520
-
In vivo residual activities of the phenylalanine hydroxylating system in phenylketonuria and variants
-
Trefz FK, Bartholome K, Bickel H et al (1981) In vivo residual activities of the phenylalanine hydroxylating system in phenylketonuria and variants. J Inherit Metab Dis 4:101-102
-
(1981)
J Inherit Metab Dis
, vol.4
, pp. 101-102
-
-
Trefz, F.K.1
Bartholome, K.2
Bickel, H.3
-
9
-
-
0000134296
-
Hyperphenylalaninemia: Phenylalanine hydroxylase deficiency
-
Scriver CR, Beaudet AL, Sly WS, Valle D eds, McGraw-Hill, New York
-
Scriver CR, Kaufman S (2001) Hyperphenylalaninemia: phenylalanine hydroxylase deficiency. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease. McGraw-Hill, New York, pp 1667-1724
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 1667-1724
-
-
Scriver, C.R.1
Kaufman, S.2
-
10
-
-
0027533685
-
Recommendations on the dietary management of phenylketonuria. Report of Medical Research Council Working Party on Phenylketonuria
-
Anonymous
-
Anonymous (1993) Recommendations on the dietary management of phenylketonuria. Report of Medical Research Council Working Party on Phenylketonuria. Arch Dis Child 68:426-427
-
(1993)
Arch Dis Child
, vol.68
, pp. 426-427
-
-
-
11
-
-
0033003339
-
Rationale for the German recommendations for phenylalanine level control in phenylketonuria
-
Burgard P, Bremer HJ, Buhrdel P et al (1999) Rationale for the German recommendations for phenylalanine level control in phenylketonuria 1997. Eur J Pediatr 158:46-54
-
(1997)
Eur J Pediatr
, vol.158
, pp. 46-54
-
-
Burgard, P.1
Bremer, H.J.2
Buhrdel, P.3
-
12
-
-
0034790129
-
National Institutes of Health Consensus Development Conference Statement: Phenylketonuria: Screening and management, October 16-18, 2000
-
National Institutes of Health Consensus Development Conference Statement: phenylketonuria: screening and management, October 16-18, 2000 (2001) Pediatrics 108:972-982
-
(2001)
Pediatrics
, vol.108
, pp. 972-982
-
-
-
14
-
-
0033514997
-
A different approach to treatment of phenylketonuria: Phenylalanine degradation with recombinant phenylalanine ammonia lyase
-
Sarkissian CN, Shao Z, Blain F et al (1999) A different approach to treatment of phenylketonuria: phenylalanine degradation with recombinant phenylalanine ammonia lyase. Proc Natl Acad Sci U S A 96:2339-2344
-
(1999)
Proc Natl Acad Sci U S A
, vol.96
, pp. 2339-2344
-
-
Sarkissian, C.N.1
Shao, Z.2
Blain, F.3
-
16
-
-
0037941238
-
Large neutral amino acid therapy and phenylketonuria: A promising approach to treatment
-
Koch R, Moseley KD, Yano S et al (2003) Large neutral amino acid therapy and phenylketonuria: a promising approach to treatment. Mol Genet Metab 79:110-113
-
(2003)
Mol Genet Metab
, vol.79
, pp. 110-113
-
-
Koch, R.1
Moseley, K.D.2
Yano, S.3
-
17
-
-
0344394559
-
Future role of large neutral amino acids in transport of phenylalanine into the brain
-
Matalon R, Surendran S, Matalon KM et al (2003) Future role of large neutral amino acids in transport of phenylalanine into the brain. Pediatrics 112(6 Pt 2):1570-1574
-
(2003)
Pediatrics
, vol.112
, Issue.6 PART 2
, pp. 1570-1574
-
-
Matalon, R.1
Surendran, S.2
Matalon, K.M.3
-
18
-
-
0037180758
-
Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria
-
Muntau AC, Roschinger W, Habich M et al (2002) Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria. N Engl J Med 347:2122-2132
-
(2002)
N Engl J Med
, vol.347
, pp. 2122-2132
-
-
Muntau, A.C.1
Roschinger, W.2
Habich, M.3
-
19
-
-
2542429299
-
The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency
-
Blau N, Erlandsen H (2004) The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. Mol Genet Metab 82:101-111
-
(2004)
Mol Genet Metab
, vol.82
, pp. 101-111
-
-
Blau, N.1
Erlandsen, H.2
-
20
-
-
31344482675
-
Intellectual development of the patients of the German Collaborative Study of children treated for phenylketonuria
-
Burgard P, Schmidt E, Rupp A et al (1996) Intellectual development of the patients of the German Collaborative Study of children treated for phenylketonuria. Eur J Pediatr 155 [Suppl 1]: S33-S38
-
(1996)
Eur J Pediatr
, vol.155
, Issue.SUPPL. 1
-
-
Burgard, P.1
Schmidt, E.2
Rupp, A.3
-
21
-
-
0037031064
-
How practical are recommendations for dietary control in phenylketonuria?
-
Walter JH, White FJ, Hall SK et al (2002) How practical are recommendations for dietary control in phenylketonuria? Lancet 360:55-57
-
(2002)
Lancet
, vol.360
, pp. 55-57
-
-
Walter, J.H.1
White, F.J.2
Hall, S.K.3
-
22
-
-
3242662769
-
Optimal management of phenylketonuria: A centralized expert team is more successful than a decentralized model of care
-
Camfield CS, Joseph M, Hurley T et al (2004) Optimal management of phenylketonuria: a centralized expert team is more successful than a decentralized model of care. J Pediatr 145:53-57
-
(2004)
J Pediatr
, vol.145
, pp. 53-57
-
-
Camfield, C.S.1
Joseph, M.2
Hurley, T.3
-
23
-
-
0025346883
-
Intelligence and quality of dietary treatment in phenylketonuria
-
Smith I, Beasley MG, Ades AE (1990) Intelligence and quality of dietary treatment in phenylketonuria. Arch Dis Child 65:472-478
-
(1990)
Arch Dis Child
, vol.65
, pp. 472-478
-
-
Smith, I.1
Beasley, M.G.2
Ades, A.E.3
-
24
-
-
0026087542
-
Effect on intelligence of relaxing the low phenylalanine diet in phenylketonuria
-
Smith I, Beasley MG, Ades AE (1991) Effect on intelligence of relaxing the low phenylalanine diet in phenylketonuria. Arch Dis Child 66:311-316
-
(1991)
Arch Dis Child
, vol.66
, pp. 311-316
-
-
Smith, I.1
Beasley, M.G.2
Ades, A.E.3
-
25
-
-
0033835385
-
Phenylketonuria: Evidence-based clinical practice. Summary of the roundtable discussion
-
Burgard P, Link R, Schweitzer-Krantz S (2000) Phenylketonuria: evidence-based clinical practice. Summary of the roundtable discussion. Eur J Pediatr 159 [Suppl 2]: S163-S168
-
(2000)
Eur J Pediatr
, vol.159
, Issue.SUPPL. 2
-
-
Burgard, P.1
Link, R.2
Schweitzer-Krantz, S.3
-
26
-
-
0034793609
-
Adjustment and intelligence among children with phenylketonuria in Sweden
-
Lundstedt G, Johansson A, Melin L et al (2001) Adjustment and intelligence among children with phenylketonuria in Sweden. Acta Paediatr 90:1147-1152
-
(2001)
Acta Paediatr
, vol.90
, pp. 1147-1152
-
-
Lundstedt, G.1
Johansson, A.2
Melin, L.3
-
27
-
-
0003222995
-
Phenylketonuria
-
Yeates KO, Ris MD, Taylor HG eds, Guildford Press, New York
-
Welsh M, Pennington B (2000) Phenylketonuria. In: Yeates KO, Ris MD, Taylor HG (eds) Pediatric neuropsychology. Guildford Press, New York, pp 275-299
-
(2000)
Pediatric Neuropsychology
, pp. 275-299
-
-
Welsh, M.1
Pennington, B.2
-
28
-
-
0029095727
-
Magnetic resonance imaging in phenylketonuria: Reversal of cerebral white matter change
-
Cleary MA, Walter JH, Wraith JE et al (1995) Magnetic resonance imaging in phenylketonuria: reversal of cerebral white matter change. J Pediatr 127:251-255
-
(1995)
J Pediatr
, vol.127
, pp. 251-255
-
-
Cleary, M.A.1
Walter, J.H.2
Wraith, J.E.3
-
29
-
-
0036106789
-
Phenylketonuria: No specific frontal lobe-dependent neuropsychological deficits of early-treated patients in comparison with diabetics
-
Feldmann R, Denecke J, Pietsch M et al (2002) Phenylketonuria: no specific frontal lobe-dependent neuropsychological deficits of early-treated patients in comparison with diabetics. Pediatr Res 51:761-765
-
(2002)
Pediatr Res
, vol.51
, pp. 761-765
-
-
Feldmann, R.1
Denecke, J.2
Pietsch, M.3
-
30
-
-
0025030122
-
Neurological deterioration in young adults with phenylketonuria
-
Thompson AJ, Smith I, Brenton D et al (1990) Neurological deterioration in young adults with phenylketonuria. Lancet 336:602-605
-
(1990)
Lancet
, vol.336
, pp. 602-605
-
-
Thompson, A.J.1
Smith, I.2
Brenton, D.3
-
31
-
-
0345355165
-
Spastic paraparesis after anaesthesia
-
Lee P, Smith I, Piesowicz A et al (1999) Spastic paraparesis after anaesthesia. Lancet 353:554
-
(1999)
Lancet
, vol.353
, pp. 554
-
-
Lee, P.1
Smith, I.2
Piesowicz, A.3
-
32
-
-
0033929488
-
Increased risk of vitamin B12 deficiency in patients with phenylketonuria on an unrestricted or relaxed diet
-
Robinson M, White FJ, Cleary MA et al (2000) Increased risk of vitamin B12 deficiency in patients with phenylketonuria on an unrestricted or relaxed diet. J Pediatr 136:545-547
-
(2000)
J Pediatr
, vol.136
, pp. 545-547
-
-
Robinson, M.1
White, F.J.2
Cleary, M.A.3
-
33
-
-
84895237593
-
The relation of biochemical abnormality to the development of mental defect in phenylketonuria
-
Discussion of Armstrong MD
-
Discussion of Armstrong MD (1957) The relation of biochemical abnormality to the development of mental defect in phenylketonuria. Columbus Ohio: Ross Laboratories
-
(1957)
Columbus Ohio: Ross Laboratories
-
-
-
34
-
-
0019156116
-
Maternal phenylketonuria and hyperphenylalaninaemia. An international survey of the outcome of of untreated and treated pregnancies
-
Lenke RR, Levy HL (1980) Maternal phenylketonuria and hyperphenylalaninaemia. An international survey of the outcome of of untreated and treated pregnancies. N Engl J Med 303:1202-1208
-
(1980)
N Engl J Med
, vol.303
, pp. 1202-1208
-
-
Lenke, R.R.1
Levy, H.L.2
-
35
-
-
0346124136
-
The Maternal Phenylketonuria International Study: 1984-2002
-
Koch R, Hanley W, Levy H et al (2003) The Maternal Phenylketonuria International Study: 1984-2002. Pediatrics 112(6 Pt 2):1523-1529
-
(2003)
Pediatrics
, vol.112
, Issue.6 PART 2
, pp. 1523-1529
-
-
Koch, R.1
Hanley, W.2
Levy, H.3
-
36
-
-
13244292426
-
Maternal phenylketonuria: Report from the United Kingdom Registry 1978-97
-
Lee PJ, Ridout D, Walter JH et al (2005) Maternal phenylketonuria: report from the United Kingdom Registry 1978-97. Arch Dis Child 90:143-146
-
(2005)
Arch Dis Child
, vol.90
, pp. 143-146
-
-
Lee, P.J.1
Ridout, D.2
Walter, J.H.3
-
37
-
-
0027397393
-
Phenylketonuria due to phenylalanine hydroxylase deficiency: An unfolding story
-
Phenylketonuria due to phenylalanine hydroxylase deficiency: an unfolding story. Medical Research Council Working Party on Phenylketonuria (1993) BMJ 306:115-119
-
(1993)
Medical Research Council Working Party on Phenylketonuria
, vol.306
, pp. 115-119
-
-
-
38
-
-
0021967690
-
The metabolic and endocrine milieu of the human fetus and mother at 18-21 weeks of gestation. I. Plasma amino acid concentrations
-
Soltesz G, Harris D, Mackenzie IZ et al (1985) The metabolic and endocrine milieu of the human fetus and mother at 18-21 weeks of gestation. I. Plasma amino acid concentrations. Pediatr Res 19:91-93
-
(1985)
Pediatr Res
, vol.19
, pp. 91-93
-
-
Soltesz, G.1
Harris, D.2
Mackenzie, I.Z.3
-
39
-
-
0348014909
-
Maternal phenylketonuria: Experiences from the United Kingdom
-
Lee PJ, Lilburn M, Baudin J (2003) Maternal phenylketonuria: experiences from the United Kingdom. Pediatrics 112(6 Pt 2):1553-1556
-
(2003)
Pediatrics
, vol.112
, Issue.6 PART 2
, pp. 1553-1556
-
-
Lee, P.J.1
Lilburn, M.2
Baudin, J.3
-
40
-
-
0035259571
-
-
American Academy of Pediatrics: Maternal phenylketonuria
-
American Academy of Pediatrics: Maternal phenylketonuria (2001) Pediatrics 107:427-428
-
(2001)
Pediatrics
, vol.107
, pp. 427-428
-
-
-
41
-
-
0033814522
-
Maternal phenylketonuria: An international study
-
Koch R, Hanley W, Levy H et al (2000) Maternal phenylketonuria: an international study. Mol Genet Metab 71:233-239
-
(2000)
Mol Genet Metab
, vol.71
, pp. 233-239
-
-
Koch, R.1
Hanley, W.2
Levy, H.3
-
42
-
-
0348014935
-
Pregnancy experiences in the woman with mild hyperphenylalaninemia
-
Levy HL, Waisbren SE, Guttler F et al (2003) Pregnancy experiences in the woman with mild hyperphenylalaninemia. Pediatrics 112(6 Pt 2):1548-1552
-
(2003)
Pediatrics
, vol.112
, Issue.6 PART 2
, pp. 1548-1552
-
-
Levy, H.L.1
Waisbren, S.E.2
Guttler, F.3
-
43
-
-
0027219375
-
Differential diagnosis of hyperphenylalaninaemia by a combined phenylalaninetetrahydrobiopterin loading test
-
Ponzone A, Guardamagna O, Spada M et al (1993) Differential diagnosis of hyperphenylalaninaemia by a combined phenylalaninetetrahydrobiopterin loading test. Eur J Pediatr 152:655-661
-
(1993)
Eur J Pediatr
, vol.152
, pp. 655-661
-
-
Ponzone, A.1
Guardamagna, O.2
Spada, M.3
-
44
-
-
0027156904
-
Cerebrospinal fluid concentrations of pterins and metabolites of serotonin and dopamine in a pediatric reference population
-
Hyland K, Surtees RA, Heales SJ et al (1993) Cerebrospinal fluid concentrations of pterins and metabolites of serotonin and dopamine in a pediatric reference population. Pediatr Res 34:10-14
-
(1993)
Pediatr Res
, vol.34
, pp. 10-14
-
-
Hyland, K.1
Surtees, R.A.2
Heales, S.J.3
-
45
-
-
0021800607
-
Clinical role of pteridine therapy in tetrahydrobiopterin deficiency
-
Smith I, Hyland K, Kendall B (1985) Clinical role of pteridine therapy in tetrahydrobiopterin deficiency. J Inherit Metab Dis 8 [Suppl 1]: 39-45
-
(1985)
J Inherit Metab Dis
, vol.8
, Issue.SUPPL. 1
, pp. 39-45
-
-
Smith, I.1
Hyland, K.2
Kendall, B.3
-
46
-
-
0027313456
-
Abnormalities of biogenic amine metabolism
-
Hyland K (1993) Abnormalities of biogenic amine metabolism. J Inherit Metab Dis 16:676-690
-
(1993)
J Inherit Metab Dis
, vol.16
, pp. 676-690
-
-
Hyland, K.1
-
47
-
-
0029879439
-
Monitoring treatment in tetrahydrobiopterin deficiency by serum prolactin
-
Spada M, Ferraris S, Ferrero GB et al (1996) Monitoring treatment in tetrahydrobiopterin deficiency by serum prolactin. J Inherit Metab Dis 19:231-233
-
(1996)
J Inherit Metab Dis
, vol.19
, pp. 231-233
-
-
Spada, M.1
Ferraris, S.2
Ferrero, G.B.3
-
48
-
-
0343294342
-
Deprenyl in the treatment of patients with tetrahydrobiopterin deficiencies
-
Schuler A, Kalmanchey R, Barsi P et al (2000) Deprenyl in the treatment of patients with tetrahydrobiopterin deficiencies. J Inherit Metab Dis 23:329-332
-
(2000)
J Inherit Metab Dis
, vol.23
, pp. 329-332
-
-
Schuler, A.1
Kalmanchey, R.2
Barsi, P.3
-
49
-
-
1242292437
-
Dihydropteridine reductase deficiency in man: From biology to treatment
-
Ponzone A, Spada M, Ferraris S et al (2004) Dihydropteridine reductase deficiency in man: from biology to treatment. Med Res Rev 24:127-150
-
(2004)
Med Res Rev
, vol.24
, pp. 127-150
-
-
Ponzone, A.1
Spada, M.2
Ferraris, S.3
|