-
1
-
-
0035319172
-
Newborn phenylketonuria screening in Turkey: At present and organization for future
-
Ozalp I, Coskun T, Tokatli A, et al: Newborn phenylketonuria screening in Turkey: At present and organization for future. Turk J Pediatr 2001;43:97-101.
-
(2001)
Turk J Pediatr
, vol.43
, pp. 97-101
-
-
Ozalp, I.1
Coskun, T.2
Tokatli, A.3
-
2
-
-
0032753733
-
Issues in newborn screening for phenylketonuria
-
Koch RK: Issues in newborn screening for phenylketonuria. Am Fam Physician 1999;60:1462-1466.
-
(1999)
Am Fam Physician
, vol.60
, pp. 1462-1466
-
-
Koch, R.K.1
-
3
-
-
0027450544
-
Mutation analysis in Turkish phenylketonuria patients
-
Ozguc M, Ozalp I, Coskun T, et al: Mutation analysis in Turkish phenylketonuria patients. J Med Genet 1993;30:129-130.
-
(1993)
J Med Genet
, vol.30
, pp. 129-130
-
-
Ozguc, M.1
Ozalp, I.2
Coskun, T.3
-
4
-
-
0022506692
-
Descriptive epidemiology of missed cases of phenylketonuria and congenital hypothyroidism
-
Holtzman C, Slazyk WE, Cordero JF, Hannon WH: Descriptive epidemiology of missed cases of phenylketonuria and congenital hypothyroidism. Pediatrics 1986;78:553-558.
-
(1986)
Pediatrics
, vol.78
, pp. 553-558
-
-
Holtzman, C.1
Slazyk, W.E.2
Cordero, J.F.3
Hannon, W.H.4
-
5
-
-
10644250701
-
Early motor activity drives spindle bursts in the developing somatosensory cortex
-
Khazipov R, Sirota A, Leinekugel X, et al: Early motor activity drives spindle bursts in the developing somatosensory cortex. Nature 2004; 432:758-761.
-
(2004)
Nature
, vol.432
, pp. 758-761
-
-
Khazipov, R.1
Sirota, A.2
Leinekugel, X.3
-
6
-
-
0033042546
-
Regulation of pteridine-requiring enzymes by the cofactor tetrahydrobiopterin
-
Nagatsu T, Ichinose H: Regulation of pteridine-requiring enzymes by the cofactor tetrahydrobiopterin. Mol Neurobiol 1999;19:79-96.
-
(1999)
Mol Neurobiol
, vol.19
, pp. 79-96
-
-
Nagatsu, T.1
Ichinose, H.2
-
7
-
-
0033826920
-
Adult care in phenylketonuria and hyperphenylalaninaemia: The relevance of neurological abnormalities
-
Brenton DP, Pietz J: Adult care in phenylketonuria and hyperphenylalaninaemia: The relevance of neurological abnormalities. Eur J Pediatr 2000;159 (Suppl 2):S114-S120.
-
(2000)
Eur J Pediatr
, vol.159
, Issue.SUPPL. 2
-
-
Brenton, D.P.1
Pietz, J.2
-
8
-
-
0029786951
-
Summary of findings from the United States Collaborative Study of children treated for phenylketonuria
-
Azen C, Koch R, Friedman E, et al: Summary of findings from the United States Collaborative Study of children treated for phenylketonuria. Eur J Pediatr 1996;155 (Suppl 1):S29-S32.
-
(1996)
Eur J Pediatr
, vol.155
, Issue.SUPPL. 1
-
-
Azen, C.1
Koch, R.2
Friedman, E.3
-
9
-
-
0028609668
-
Review of neuropsychological functioning in treated phenylketonuria: An information processing approach
-
Waisbren SE, Brown MJ, de Sonneville LM, Levy HL: Review of neuropsychological functioning in treated phenylketonuria: An information processing approach. Acta Paediatr 1994;407: 98-103.
-
(1994)
Acta Paediatr
, vol.407
, pp. 98-103
-
-
Waisbren, S.E.1
Brown, M.J.2
de Sonneville, L.M.3
Levy, H.L.4
-
10
-
-
33846325954
-
Phenylketonuria with normal intelligence
-
Allen RJ, Gibson RM: Phenylketonuria with normal intelligence. Am J Dis Child 1961;102:115-122.
-
(1961)
Am J Dis Child
, vol.102
, pp. 115-122
-
-
Allen, R.J.1
Gibson, R.M.2
-
11
-
-
0025855241
-
Molecular basis of phenotypic heterogeneity in phenylketonuria
-
Okano Y, Eisensmith RC, Guttler F, et al: Molecular basis of phenotypic heterogeneity in phenylketonuria. N Engl J Med 1991; 324:1232-1238.
-
(1991)
N Engl J Med
, vol.324
, pp. 1232-1238
-
-
Okano, Y.1
Eisensmith, R.C.2
Guttler, F.3
-
12
-
-
0028001510
-
Genetic and neurological evaluation of untreated and late-treated patients with phenylketonuria
-
Özalp I, Coskun T, Ozguc A, et al: Genetic and neurological evaluation of untreated and late-treated patients with phenylketonuria. J Inherit Metab Dis 1994;17:371.
-
(1994)
J Inherit Metab Dis
, vol.17
, pp. 371
-
-
Özalp, I.1
Coskun, T.2
Ozguc, A.3
-
13
-
-
0017131044
-
Lower brain phenylalanine levels by giving other large neutral amino acids
-
Andersen AE, Avins L: Lower brain phenylalanine levels by giving other large neutral amino acids. Arch Neurol 1976;33:684-686.
-
(1976)
Arch Neurol
, vol.33
, pp. 684-686
-
-
Andersen, A.E.1
Avins, L.2
-
14
-
-
0346496390
-
Some factors relevant to the consideration of a possible alternative treatment for classical phenylketonuria
-
Kaufman S: Some factors relevant to the consideration of a possible alternative treatment for classical phenylketonuria. J Inherit Metab Dis 1998;21:4-19.
-
(1998)
J Inherit Metab Dis
, vol.21
, pp. 4-19
-
-
Kaufman, S.1
-
15
-
-
0032959815
-
Genotype and intellectual phenotype in untreated phenylketonuria patients
-
Ramus SJ, Forrest SM, Pitt DD, Cotton RG: Genotype and intellectual phenotype in untreated phenylketonuria patients. Pediatr Res 1999; 45:474-481.
-
(1999)
Pediatr Res
, vol.45
, pp. 474-481
-
-
Ramus, S.J.1
Forrest, S.M.2
Pitt, D.D.3
Cotton, R.G.4
-
16
-
-
0034790495
-
Individual blood-brain barrier phenylalanine transport determines clinical outcome in phenylketonuria
-
Weglage J, Wiedermann D, Denecke J, et al: Individual blood-brain barrier phenylalanine transport determines clinical outcome in phenylketonuria. Ann Neurol 2001;50:463-467.
-
(2001)
Ann Neurol
, vol.50
, pp. 463-467
-
-
Weglage, J.1
Wiedermann, D.2
Denecke, J.3
-
17
-
-
0016230579
-
Neonatal screening for phenylketonuria 3. Altered sex ratio; extent and possible causes
-
Holtzman NA, Meek AG, Mellits ED, Kallman CH: Neonatal screening for phenylketonuria 3. Altered sex ratio; extent and possible causes. J Pediatr 1974;85:175-181.
-
(1974)
J Pediatr
, vol.85
, pp. 175-181
-
-
Holtzman, N.A.1
Meek, A.G.2
Mellits, E.D.3
Kallman, C.H.4
-
18
-
-
0033806349
-
Clinical significance of brain phenylalanine concentration assessed by in vivo proton magnetic resonance spectroscopy in phenylketonuria
-
Leuzzi V, Bianchi MC, Tosetti M, et al: Clinical significance of brain phenylalanine concentration assessed by in vivo proton magnetic resonance spectroscopy in phenylketonuria. J Inherit Metab Dis 2000;23:563-570.
-
(2000)
J Inherit Metab Dis
, vol.23
, pp. 563-570
-
-
Leuzzi, V.1
Bianchi, M.C.2
Tosetti, M.3
-
19
-
-
17844379715
-
Newborn screening report sparks debate in USA
-
Black H: Newborn screening report sparks debate in USA. Lancet 2005;365:1453-1454.
-
(2005)
Lancet
, vol.365
, pp. 1453-1454
-
-
Black, H.1
|