-
1
-
-
75449123150
-
A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants
-
Guthrie R, Susi A. A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants. Pediatrics 1963;32:338-43.
-
(1963)
Pediatrics
, vol.32
, pp. 338-343
-
-
Guthrie, R.1
Susi, A.2
-
2
-
-
67650435870
-
Testing of newborn siblings in phenylketonuric families
-
Berry HK, Umbarger P, Sutherland B. Testing of newborn siblings in phenylketonuric families. JAMA 1964;189:641-2.
-
(1964)
JAMA
, vol.189
, pp. 641-642
-
-
Berry, H.K.1
Umbarger, P.2
Sutherland, B.3
-
3
-
-
0016042156
-
-
Holtzman NA, Mellits ED, Kallman CH. Neonatal screening for phenylketonuria, II: age dependence of initial phenylalanine in infants with PKU. Pediatrics 1974;53:353-7.
-
Holtzman NA, Mellits ED, Kallman CH. Neonatal screening for phenylketonuria, II: age dependence of initial phenylalanine in infants with PKU. Pediatrics 1974;53:353-7.
-
-
-
-
4
-
-
0020515741
-
Newborn screening for phenylketonuria: Predictive validity as a function of age
-
McCabe ERB, McCabe L, Mosher GA, et al. Newborn screening for phenylketonuria: predictive validity as a function of age. Pediatrics 1983;72:390-8.
-
(1983)
Pediatrics
, vol.72
, pp. 390-398
-
-
McCabe, E.R.B.1
McCabe, L.2
Mosher, G.A.3
-
5
-
-
0018415378
-
Delayed elevation of serum phenylalanine level in a breast-fed child
-
Binder J, Johnson CF, Saboe B, et al. Delayed elevation of serum phenylalanine level in a breast-fed child. Pediatrics 1979;63:334-6.
-
(1979)
Pediatrics
, vol.63
, pp. 334-336
-
-
Binder, J.1
Johnson, C.F.2
Saboe, B.3
-
6
-
-
0026088909
-
Detection of phenylketonuria in the very early newborn blood specimen
-
Doherty LB, Rohr FJ, Levy HL. Detection of phenylketonuria in the very early newborn blood specimen. Pediatrics 1991;87:240-4.
-
(1991)
Pediatrics
, vol.87
, pp. 240-244
-
-
Doherty, L.B.1
Rohr, F.J.2
Levy, H.L.3
-
7
-
-
0013932628
-
Phenylketonuria: Early detection, diagnosis, and treatment
-
Cunningham GC. Phenylketonuria: early detection, diagnosis, and treatment. Calif Med 1966;105:1-7.
-
(1966)
Calif Med
, vol.105
, pp. 1-7
-
-
Cunningham, G.C.1
-
8
-
-
0015593782
-
Effect of feeding on screening for PKU infants
-
Dontanville VK, Cunningham GC. Effect of feeding on screening for PKU infants. Pediatrics 1973;51:531-8.
-
(1973)
Pediatrics
, vol.51
, pp. 531-538
-
-
Dontanville, V.K.1
Cunningham, G.C.2
-
9
-
-
0020017709
-
New issues in newborn screening for phenylketonuria and congenital hypothyroidism
-
Committee on Genetics, American Academy of Pediatrics
-
Committee on Genetics, American Academy of Pediatrics. New issues in newborn screening for phenylketonuria and congenital hypothyroidism. Pediatrics 1982;69:104-6
-
(1982)
Pediatrics
, vol.69
, pp. 104-106
-
-
-
10
-
-
0028953959
-
Results of screening for phenylketonuria using a lower cutoff value in early collected specimens
-
Arnopp JJ, Lorey FW, Currier RJ, et al. Results of screening for phenylketonuria using a lower cutoff value in early collected specimens. Screening 1995;3:193-9.
-
(1995)
Screening
, vol.3
, pp. 193-199
-
-
Arnopp, J.J.1
Lorey, F.W.2
Currier, R.J.3
-
11
-
-
0028219176
-
Validity of screening early collected newborn specimens for phenylketonuria using a fluorometric method
-
Jew K, Kan K, Koch R, et al. Validity of screening early collected newborn specimens for phenylketonuria using a fluorometric method. Screening 1994;3:1-9.
-
(1994)
Screening
, vol.3
, pp. 1-9
-
-
Jew, K.1
Kan, K.2
Koch, R.3
-
12
-
-
0031037977
-
Newborn phenylketonuria (PKU) Guthrie (BIA) screening and early hospital discharge
-
Hanley WB, Demshar H, Preston MA, et al. Newborn phenylketonuria (PKU) Guthrie (BIA) screening and early hospital discharge. Early Hum Dev 1997;47:87-96.
-
(1997)
Early Hum Dev
, vol.47
, pp. 87-96
-
-
Hanley, W.B.1
Demshar, H.2
Preston, M.A.3
-
13
-
-
0019509211
-
Prospective study of early neonatal screening for phenylketonuria
-
Meryash DL, Levy HL, Guthrie R, et al. Prospective study of early neonatal screening for phenylketonuria. N Engl J Med 1981; 304:294-6.
-
(1981)
N Engl J Med
, vol.304
, pp. 294-296
-
-
Meryash, D.L.1
Levy, H.L.2
Guthrie, R.3
-
14
-
-
1542560237
-
Fluorometric method for the determination of phenylalanine in serum
-
McCaman MW, Robins E. Fluorometric method for the determination of phenylalanine in serum. J Lab Clin Med 1962;59:885-9.
-
(1962)
J Lab Clin Med
, vol.59
, pp. 885-889
-
-
McCaman, M.W.1
Robins, E.2
-
15
-
-
0026729743
-
Screening for tetrahydro-biopterin deficiency in newborns using dried urine on filter paper
-
Blau N, Kierat L, Heitzmann CW, et al. Screening for tetrahydro-biopterin deficiency in newborns using dried urine on filter paper. J Inker Metab Dis 1992;15:402-4.
-
(1992)
J Inker Metab Dis
, vol.15
, pp. 402-404
-
-
Blau, N.1
Kierat, L.2
Heitzmann, C.W.3
-
16
-
-
0019977878
-
Hyperphenylalaninemia due to dihydropteridine reductase deficiency: Diagnosis by enzyme assay on dried blood spots
-
Arai N, Narisawa K, Hayakawa H, et al. Hyperphenylalaninemia due to dihydropteridine reductase deficiency: diagnosis by enzyme assay on dried blood spots. Pediatrics 1982;70:426-30.
-
(1982)
Pediatrics
, vol.70
, pp. 426-430
-
-
Arai, N.1
Narisawa, K.2
Hayakawa, H.3
-
17
-
-
0027219375
-
Differential diagnosis of hyperphenylalaninemia by a combined phenylalanine-tetrahydrobiopterin loading test
-
Ponzone A, Guardamagna O, Spada M, et al. Differential diagnosis of hyperphenylalaninemia by a combined phenylalanine-tetrahydrobiopterin loading test. Eur J Pediatr 1993;152:655-61.
-
(1993)
Eur J Pediatr
, vol.152
, pp. 655-661
-
-
Ponzone, A.1
Guardamagna, O.2
Spada, M.3
-
18
-
-
0023139552
-
Screening for malignant phenylketonuria
-
Ponzone A, Guardamagna O, Ferraris S, et al. Screening for malignant phenylketonuria. Lancet 1987;1:512-3.
-
(1987)
Lancet
, vol.1
, pp. 512-513
-
-
Ponzone, A.1
Guardamagna, O.2
Ferraris, S.3
-
19
-
-
0032231461
-
A European multicenter study of phenylalanine hydroxylase deficiency: Classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype
-
Guldberg P, Rey F, Zschocke J, et al. A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype. Am J Hum Genet 1998;63:71-9.
-
(1998)
Am J Hum Genet
, vol.63
, pp. 71-79
-
-
Guldberg, P.1
Rey, F.2
Zschocke, J.3
-
20
-
-
0028841903
-
Characterization of phenylketonuria alleles in the Italian population
-
Dianzani I, Giannattasio S, de Sanctis L, et al. Characterization of phenylketonuria alleles in the Italian population. Eur J Hum Genet 1995;3:294-302.
-
(1995)
Eur J Hum Genet
, vol.3
, pp. 294-302
-
-
Dianzani, I.1
Giannattasio, S.2
de Sanctis, L.3
-
21
-
-
0031813245
-
Mutation Analysis Consortium Database: 1997. Prototype for relational locus-specific mutation databases
-
Nowacki PM, Bych S, Prevost L, et al. Mutation Analysis Consortium Database: 1997. Prototype for relational locus-specific mutation databases. Nucl Acids Res 1998;26:220-5.
-
(1998)
Nucl Acids Res
, vol.26
, pp. 220-225
-
-
Nowacki, P.M.1
Bych, S.2
Prevost, L.3
-
22
-
-
8044244805
-
Protein content of human milk, from cholostrum to mature milk
-
Räihä NCRR ed, New York: Raven Press;
-
Räihä NCR. Protein content of human milk, from cholostrum to mature milk. In: Räihä NCRR (ed). Protein Metabolism During Infancy. New York: Raven Press; 1994. pp. 211 -28.
-
(1994)
Protein Metabolism During Infancy
, pp. 211-228
-
-
Räihä, N.C.R.1
-
23
-
-
0015114551
-
A study of the development of phenylalanine hydroxylase in fetuses of several mammalian species
-
Friedman PA, Kaufman S. A study of the development of phenylalanine hydroxylase in fetuses of several mammalian species. Arch Biochem Biophys 1971;146:321-6.
-
(1971)
Arch Biochem Biophys
, vol.146
, pp. 321-326
-
-
Friedman, P.A.1
Kaufman, S.2
-
24
-
-
0023812758
-
Phenylalanine hydroxylase expression in liver of a fetus with phenylketonuria
-
Ledley FD, Koch R, Jew K, et al. Phenylalanine hydroxylase expression in liver of a fetus with phenylketonuria. J Pediatr 1988;113:463-8.
-
(1988)
J Pediatr
, vol.113
, pp. 463-468
-
-
Ledley, F.D.1
Koch, R.2
Jew, K.3
-
25
-
-
0013889944
-
Phenylalanine conversion to tyrosine by the human fetal liver
-
Ryan WL, Orr W. Phenylalanine conversion to tyrosine by the human fetal liver. Arch Biochem Biophys 1966;113:684-6.
-
(1966)
Arch Biochem Biophys
, vol.113
, pp. 684-686
-
-
Ryan, W.L.1
Orr, W.2
-
26
-
-
0030056375
-
Proteolysis and phenylalanine hydroxylation in response to parenteral nutrition in extremely premature and normal newborns
-
Denne SC, Karn CA, Ahlrichs JA, et al. Proteolysis and phenylalanine hydroxylation in response to parenteral nutrition in extremely premature and normal newborns. J Clin Invest 1996;97:746-54.
-
(1996)
J Clin Invest
, vol.97
, pp. 746-754
-
-
Denne, S.C.1
Karn, C.A.2
Ahlrichs, J.A.3
-
27
-
-
0027513295
-
Catalytic activity of tetrahydrobiopterin in dihydropteridine reductase deficiency and indications for treatment
-
Ponzone A, Guardamagna O, Dianzani I, et al. Catalytic activity of tetrahydrobiopterin in dihydropteridine reductase deficiency and indications for treatment. Pediatr Res 1993;33:125-8.
-
(1993)
Pediatr Res
, vol.33
, pp. 125-128
-
-
Ponzone, A.1
Guardamagna, O.2
Dianzani, I.3
-
28
-
-
0029992871
-
Phenotyping of phenylk-etonuric patients by oral phenylalanine loading
-
Ponzone A, Spada M, de Sanctis L, et al. Phenotyping of phenylk-etonuric patients by oral phenylalanine loading. Eur J Pediatr 1996;155:523-5.
-
(1996)
Eur J Pediatr
, vol.155
, pp. 523-525
-
-
Ponzone, A.1
Spada, M.2
de Sanctis, L.3
-
29
-
-
0028998995
-
In vivo assessment of mutations in the phenylalanine hydroxylase gene by phenylalanine loading: Characterization of seven common mutations
-
Guldberg P, Mikkelsen I, Henriksen KF, et al. In vivo assessment of mutations in the phenylalanine hydroxylase gene by phenylalanine loading: characterization of seven common mutations. Eur J Pediatr 1995;154:551-6.
-
(1995)
Eur J Pediatr
, vol.154
, pp. 551-556
-
-
Guldberg, P.1
Mikkelsen, I.2
Henriksen, K.F.3
-
30
-
-
0021995454
-
Composition of postnatal weight loss and subsequent weight gain in small for date newborn infants
-
Van Der Wagen A, Okken A, Zweens J, et al. Composition of postnatal weight loss and subsequent weight gain in small for date newborn infants. Acta Paediatr Scand 1985;74:57-61.
-
(1985)
Acta Paediatr Scand
, vol.74
, pp. 57-61
-
-
Van Der Wagen, A.1
Okken, A.2
Zweens, J.3
-
31
-
-
0343827701
-
Inborn errors of metabolism: A model for the evaluation of essential amino acids requirements
-
Raiha NCRR ed, New York: Raven Press;
-
Bresson JL, Rey F, Poggi F, et al. Inborn errors of metabolism: a model for the evaluation of essential amino acids requirements. In: Raiha NCRR (ed). Protein Metabolism During Infancy. New York: Raven Press; 1994. pp. 211 -28.
-
(1994)
Protein Metabolism During Infancy
, pp. 211-228
-
-
Bresson, J.L.1
Rey, F.2
Poggi, F.3
-
32
-
-
0016707505
-
Determination of phenylalanine hydroxylase activity in patients with phenylketonuria and hyper- phenylalaninemia
-
Bartholomè K, Lutz P, Bickel H. Determination of phenylalanine hydroxylase activity in patients with phenylketonuria and hyper- phenylalaninemia. Pediatr Res 1975;9:899-903.
-
(1975)
Pediatr Res
, vol.9
, pp. 899-903
-
-
Bartholomè, K.1
Lutz, P.2
Bickel, H.3
-
33
-
-
0025313161
-
Significant phenylalanine hydroxyla-tion in vivo in patients with classical phenylketonuria
-
Thompson GN, Halliday D. Significant phenylalanine hydroxyla-tion in vivo in patients with classical phenylketonuria. J Clin Invest 1990;86:317-22.
-
(1990)
J Clin Invest
, vol.86
, pp. 317-322
-
-
Thompson, G.N.1
Halliday, D.2
-
34
-
-
0343546606
-
Prefrontal cortex cognitive deficits in early treated phenylketonuria: Results of a longitudinal study in children and of an animal model
-
Diamond A, Ciarmintaro V, Donner E. Prefrontal cortex cognitive deficits in early treated phenylketonuria: results of a longitudinal study in children and of an animal model. Abstr Soc Neurosci 1992;18:1063-9.
-
(1992)
Abstr Soc Neurosci
, vol.18
, pp. 1063-1069
-
-
Diamond, A.1
Ciarmintaro, V.2
Donner, E.3
-
35
-
-
0026661691
-
An occipito-temporal syndrome in adolescents with optimally controlled hyperphenylalaninemia
-
Lou HC, Toft PB, Andresen J, et al. An occipito-temporal syndrome in adolescents with optimally controlled hyperphenylalaninemia. J Inker Metab Dis 1992;15:687-95.
-
(1992)
J Inker Metab Dis
, vol.15
, pp. 687-695
-
-
Lou, H.C.1
Toft, P.B.2
Andresen, J.3
-
36
-
-
0027442890
-
The North American Collaborative Study of Maternal Phenylketonuria. Status
-
Koch R, Levy HL, Matalon R, et al. The North American Collaborative Study of Maternal Phenylketonuria. Status report 1993. Am J Dis Child 1993;147:1224-30.
-
(1993)
Am J Dis Child
, vol.147
, pp. 1224-1230
-
-
Koch, R.1
Levy, H.L.2
Matalon, R.3
-
37
-
-
0028052003
-
Maternal mild hyper-phenylalaninaemia: An international survey of offspring outcome
-
Levy HL, Waisbren SE, Lobbregt D, et al. Maternal mild hyper-phenylalaninaemia: an international survey of offspring outcome. Lancet 1994;344:1589-94.
-
(1994)
Lancet
, vol.344
, pp. 1589-1594
-
-
Levy, H.L.1
Waisbren, S.E.2
Lobbregt, D.3
-
38
-
-
0026810135
-
Issues in newborn screening
-
Committee on Genetics, American Academy of Pediatrics
-
Committee on Genetics, American Academy of Pediatrics. Issues in newborn screening. Pediatrics 1992;89:345-9.
-
(1992)
Pediatrics
, vol.89
, pp. 345-349
-
-
-
39
-
-
0029053947
-
Delayed increase in blood phenylalanine concentration in phenylketonuric children initially classified as mild hyperphenylalaninemia
-
Berlin CM Jr, Levy HL, Hanley WB. Delayed increase in blood phenylalanine concentration in phenylketonuric children initially classified as mild hyperphenylalaninemia. Screening 1995;4:35-9.
-
(1995)
Screening
, vol.4
, pp. 35-39
-
-
Berlin Jr, C.M.1
Levy, H.L.2
Hanley, W.B.3
|