-
1
-
-
0000059155
-
The hyperphenylalaninemias
-
Scriver CR, Beaudet A, Sly W, Valle D (eds), McGraw-Hill, New York
-
Scriver CR, Kaufman S, Eisensmith RC, Woo SLC 1995 The hyperphenylalaninemias. In: Scriver CR, Beaudet A, Sly W, Valle D (eds) The Metabolic and Molecular Basis of Inherited Disease, 7th Ed, McGraw-Hill, New York, pp 1015-1075
-
(1995)
The Metabolic and Molecular Basis of Inherited Disease, 7th Ed
, pp. 1015-1075
-
-
Scriver, C.R.1
Kaufman, S.2
Eisensmith, R.C.3
Woo, S.L.C.4
-
2
-
-
0002610221
-
The hyperphenylalaninemias
-
Scriver CR, Beaudet A, Sly W, Valle D (eds), McGraw-Hill, New York
-
Scriver CR, Kaufman S, Woo SLC 1989 The hyperphenylalaninemias. In: Scriver CR, Beaudet A, Sly W, Valle D (eds) The Metabolic Basis of Inherited Disease, 6th Ed, McGraw-Hill, New York, pp 495-546
-
(1989)
The Metabolic Basis of Inherited Disease, 6th Ed
, pp. 495-546
-
-
Scriver, C.R.1
Kaufman, S.2
Woo, S.L.C.3
-
3
-
-
3042863211
-
PAH mutation analysis consortium database: A database for disease producing and other allelic variation at the human PAH locus
-
Hoang L, Byck S, Prevost L, Scriver C 1996 PAH mutation analysis consortium database: a database for disease producing and other allelic variation at the human PAH locus. Nucleic Acids Res 24:127-131
-
(1996)
Nucleic Acids Res
, vol.24
, pp. 127-131
-
-
Hoang, L.1
Byck, S.2
Prevost, L.3
Scriver, C.4
-
4
-
-
0025855241
-
Molecular basis of phenotype heterogeneity in phenylketonuria
-
Okano Y, Eisensmith RC, Guttler F, Lichter-Konecki U, Konecki DS, Trefz FK, Dasovich M, Wang T, Kenriksen K, Lou H, Woo SLC 1991 Molecular basis of phenotype heterogeneity in phenylketonuria. N Engl J Med 324:1232-1238
-
(1991)
N Engl J Med
, vol.324
, pp. 1232-1238
-
-
Okano, Y.1
Eisensmith, R.C.2
Guttler, F.3
Lichter-Konecki, U.4
Konecki, D.S.5
Trefz, F.K.6
Dasovich, M.7
Wang, T.8
Kenriksen, K.9
Lou, H.10
Woo, S.L.C.11
-
5
-
-
0027013014
-
Two missense mutations causing mild hyperphenylalaninemia associated with DNA haplotype 12
-
Svensson E, Eisensmith RC, Dwomiczak B, Von Dobeln U, Hagenfeldt L, Horst J, Woo SLC 1992 Two missense mutations causing mild hyperphenylalaninemia associated with DNA haplotype 12. Hum Mutat 1:129-137
-
(1992)
Hum Mutat
, vol.1
, pp. 129-137
-
-
Svensson, E.1
Eisensmith, R.C.2
Dwomiczak, B.3
Von Dobeln, U.4
Hagenfeldt, L.5
Horst, J.6
Woo, S.L.C.7
-
6
-
-
0027390018
-
Relationship between genotype and phenotype in Swedish phenylketonuria and hyperphenylalaninemia patients
-
Svensson E, von Dobeln U, Eisensmith RC, Hagenfeldt L, Woo SLC 1993 Relationship between genotype and phenotype in Swedish phenylketonuria and hyperphenylalaninemia patients. Eur J Pediatr 152:132-139
-
(1993)
Eur J Pediatr
, vol.152
, pp. 132-139
-
-
Svensson, E.1
Von Dobeln, U.2
Eisensmith, R.C.3
Hagenfeldt, L.4
Woo, S.L.C.5
-
7
-
-
0027313697
-
Genotype-phenotype correlations in phenylketonuria
-
Trefz FK, Burgard P, Konig T, Goebelschreiner B, Lichter-Konecki U, Konecki D, Schmidt E, Schmidt H, Bickel H 1993 Genotype-phenotype correlations in phenylketonuria. Clin Chim Acta 217:15-21
-
(1993)
Clin Chim Acta
, vol.217
, pp. 15-21
-
-
Trefz, F.K.1
Burgard, P.2
Konig, T.3
Goebelschreiner, B.4
Lichter-Konecki, U.5
Konecki, D.6
Schmidt, E.7
Schmidt, H.8
Bickel, H.9
-
8
-
-
0028325917
-
Molecular and population genetics of phenylketonuria in Orientals: Correlation between phenotype and genotype
-
Okano Y, Hase Y, Lee DH, Takada G, Shigematsu Y, Oura T, Isshiki G 1994 Molecular and population genetics of phenylketonuria in Orientals: correlation between phenotype and genotype. J Inherit Metab Dis 17:156-159
-
(1994)
J Inherit Metab Dis
, vol.17
, pp. 156-159
-
-
Okano, Y.1
Hase, Y.2
Lee, D.H.3
Takada, G.4
Shigematsu, Y.5
Oura, T.6
Isshiki, G.7
-
9
-
-
0027270101
-
Comparison of genotype and intellectual phenotype in untreated PKU patients
-
Ramus SJ, Forrest SM, Pitt DB, Saleeba JA, Cotton RGH 1993 Comparison of genotype and intellectual phenotype in untreated PKU patients. J Med Genet 30:401-405
-
(1993)
J Med Genet
, vol.30
, pp. 401-405
-
-
Ramus, S.J.1
Forrest, S.M.2
Pitt, D.B.3
Saleeba, J.A.4
Cotton, R.G.H.5
-
10
-
-
84995069570
-
PKU and non-PKU hyperphenylalaninemia: Differentiation, indication for therapy and therapeutic results
-
Trefz FK, Lichter-Konecki U, Konecki DS, Schlotter M, Bickel H 1988 PKU and non-PKU hyperphenylalaninemia: differentiation, indication for therapy and therapeutic results. Acta Paediatr Jpn 30:397-404
-
(1988)
Acta Paediatr Jpn
, vol.30
, pp. 397-404
-
-
Trefz, F.K.1
Lichter-Konecki, U.2
Konecki, D.S.3
Schlotter, M.4
Bickel, H.5
-
11
-
-
0027218030
-
Mutation genotype of mentally retarded patients with phenylketonuria
-
Guttler F, Guldberg P, Henriksen KF 1993 Mutation genotype of mentally retarded patients with phenylketonuria. Dev Brain Dysfunct 6:92-96
-
(1993)
Dev Brain Dysfunct
, vol.6
, pp. 92-96
-
-
Guttler, F.1
Guldberg, P.2
Henriksen, K.F.3
-
13
-
-
0028914785
-
Characterization of phenylketonuria alleles in untreated PKU patients from Victoria, Australia: Origin of alleles and haplotypes
-
Ramus SJ, Treacy EP, Cotton RGH 1995 Characterization of phenylketonuria alleles in untreated PKU patients from Victoria, Australia: origin of alleles and haplotypes. Am J Hum Genet 56:1034-1041
-
(1995)
Am J Hum Genet
, vol.56
, pp. 1034-1041
-
-
Ramus, S.J.1
Treacy, E.P.2
Cotton, R.G.H.3
-
14
-
-
0015221479
-
The natural history of untreated phenylketonuria
-
Pitt D 1971 The natural history of untreated phenylketonuria. Med J Aust 1:378-383
-
(1971)
Med J Aust
, vol.1
, pp. 378-383
-
-
Pitt, D.1
-
15
-
-
0345262972
-
Phenylketonuria with normal intelligence; report of two cases
-
Pitt D 1971 Phenylketonuria with normal intelligence; report of two cases. Aust J Ment Ret 1:160-163
-
(1971)
Aust J Ment Ret
, vol.1
, pp. 160-163
-
-
Pitt, D.1
-
16
-
-
0025745106
-
The natural history of untreated phenylketonuria over 20 years
-
Pitt D, Danks DM 1991 The natural history of untreated phenylketonuria over 20 years. J Paediatr Child Health 27:189-190
-
(1991)
J Paediatr Child Health
, vol.27
, pp. 189-190
-
-
Pitt, D.1
Danks, D.M.2
-
17
-
-
0029062529
-
Frequent sequence variant in the human tyrosine hydroxylase gene
-
Ludecke B, Bartholome K 1995 Frequent sequence variant in the human tyrosine hydroxylase gene. Hum Genet 95:716
-
(1995)
Hum Genet
, vol.95
, pp. 716
-
-
Ludecke, B.1
Bartholome, K.2
-
18
-
-
0029099824
-
Mutations Ivs4nt 1:47 del CT and G148S identified in the phenylalanine hydroxylase gene by RT-PCR of illegitimate transcripts and chemical cleavage of mismatch
-
Ramus SJ, Cotton RGH 1995 Mutations Ivs4nt 1:47 del CT and G148S identified in the phenylalanine hydroxylase gene by RT-PCR of illegitimate transcripts and chemical cleavage of mismatch. Hum Mutat 6:250-251
-
(1995)
Hum Mutat
, vol.6
, pp. 250-251
-
-
Ramus, S.J.1
Cotton, R.G.H.2
-
19
-
-
0019288144
-
Hyperphenylalaninemia: Diagnosis and classification of the various types of phenylalanine hydroxylase deficiency in childhood
-
Guttler F 1980 Hyperphenylalaninemia: diagnosis and classification of the various types of phenylalanine hydroxylase deficiency in childhood. Acta Paediatr Scand Suppl 280:1-80
-
(1980)
Acta Paediatr Scand Suppl
, vol.280
, pp. 1-80
-
-
Guttler, F.1
-
20
-
-
0027312827
-
Molecular basis of phenylketonuria in an English population
-
Tyfield LA, Osborn MJ, King SK, Jones MM, Holten JB 1993 Molecular basis of phenylketonuria in an English population. Dev Brain Dysfunct 6:60-67
-
(1993)
Dev Brain Dysfunct
, vol.6
, pp. 60-67
-
-
Tyfield, L.A.1
Osborn, M.J.2
King, S.K.3
Jones, M.M.4
Holten, J.B.5
-
21
-
-
0028706944
-
Mutations in the phenylalanine hydroxylase gene: Genetic determinants for phenotypic variability of hyperphenylalaninemia
-
Guttler F, Guldberg P 1994 Mutations in the phenylalanine hydroxylase gene: genetic determinants for phenotypic variability of hyperphenylalaninemia. Acta Paediatr Suppl 407:49-56
-
(1994)
Acta Paediatr Suppl
, vol.407
, pp. 49-56
-
-
Guttler, F.1
Guldberg, P.2
-
22
-
-
84920315838
-
Genetic and neurological evaluation of untreated and late treated patients with phenylketonuria
-
Ozlap I, Coskum T, Ozguc M, Tokath A, Yalaz K, Vanh L, Yilmaz E, Erbay A 1994 Genetic and neurological evaluation of untreated and late treated patients with phenylketonuria. J Inherit Metab Dis 17:317
-
(1994)
J Inherit Metab Dis
, vol.17
, pp. 317
-
-
Ozlap, I.1
Coskum, T.2
Ozguc, M.3
Tokath, A.4
Yalaz, K.5
Vanh, L.6
Yilmaz, E.7
Erbay, A.8
-
23
-
-
0028131302
-
Different phenotypic manifestations associated with identical phenylketonuria genotypes in two Spanish families
-
Perez B, Desviat LR, Garcia MJ, Ugarte M 1994 Different phenotypic manifestations associated with identical phenylketonuria genotypes in two Spanish families. J Inherit Metab Dis 17:377-378
-
(1994)
J Inherit Metab Dis
, vol.17
, pp. 377-378
-
-
Perez, B.1
Desviat, L.R.2
Garcia, M.J.3
Ugarte, M.4
-
24
-
-
0026677623
-
Multiple origins for phenylketonuria in Europe
-
Eisensmith RC, Okano Y, Dasovich M, Wang T, Guttler F, Lou H, Guldberg P, Lichter-Konecki U, Konecki DS, Svensson E, Hagenfeldt L, Rey F, Munich A, Lyonnet S, Cockburn F, Connor JM, Pembrey ME, Smith I, Gitzelmann R, Steinmann B, Apold J, Eiken HG, Giovannini M, Riva E, Longhi R, Romano C, Cerone R, Naughten ER, Mullins C, Cachalane S, Ozlap I, Fekete G, Schuler D, Berencsi GY, Nasz I, Brdicka R, Kamaryt J, Pijackova A, Cabalska B, Bozkowa K, Schwartz E, Kalinin VN, Jin L, Chakraborty R, Woo SLC 1992 Multiple origins for phenylketonuria in Europe. Am J Hum Genet 51:1355-1363
-
(1992)
Am J Hum Genet
, vol.51
, pp. 1355-1363
-
-
Eisensmith, R.C.1
Okano, Y.2
Dasovich, M.3
Wang, T.4
Guttler, F.5
Lou, H.6
Guldberg, P.7
Lichter-Konecki, U.8
Konecki, D.S.9
Svensson, E.10
Hagenfeldt, L.11
Rey, F.12
Munich, A.13
Lyonnet, S.14
Cockburn, F.15
Connor, J.M.16
Pembrey, M.E.17
Smith, I.18
Gitzelmann, R.19
Steinmann, B.20
Apold, J.21
Eiken, H.G.22
Giovannini, M.23
Riva, E.24
Longhi, R.25
Romano, C.26
Cerone, R.27
Naughten, E.R.28
Mullins, C.29
Cachalane, S.30
Ozlap, I.31
Fekete, G.32
Schuler, D.33
Berencsi, G.Y.34
Nasz, I.35
Brdicka, R.36
Kamaryt, J.37
Pijackova, A.38
Cabalska, B.39
Bozkowa, K.40
Schwartz, E.41
Kalinin, V.N.42
Jin, L.43
Chakraborty, R.44
Woo, S.L.C.45
more..
-
25
-
-
0025313161
-
Significant phenylalanine hydroxylation in vivo in patients with classical phenylketonuria
-
Thompson GN, Halliday D 1990 Significant phenylalanine hydroxylation in vivo in patients with classical phenylketonuria. J Clin Invest 86:317-322
-
(1990)
J Clin Invest
, vol.86
, pp. 317-322
-
-
Thompson, G.N.1
Halliday, D.2
|