-
1
-
-
0037389132
-
Mutational spectrum in German patients with phenylalanine hydroxylase deficiency
-
Aulehla-Scholz C, Heilbronner H (2003) Mutational spectrum in German patients with phenylalanine hydroxylase deficiency. Hum Mutat 21:399-400.
-
(2003)
Hum Mutat
, vol.21
, pp. 399-400
-
-
Aulehla-Scholz, C.1
Heilbronner, H.2
-
2
-
-
0025752980
-
Application of natural and amplification created restriction sites for the diagnosis of PKU mutations
-
Eiken HG, Odland E, Boman H, et al. (1991) Application of natural and amplification created restriction sites for the diagnosis of PKU mutations. Nucleic Acids Res 19:1427-1430. (Pubitemid 21913232)
-
(1991)
Nucleic Acids Research
, vol.19
, Issue.7
, pp. 1427-1430
-
-
Eiken, H.G.1
Odland, E.2
Boman, H.3
Skjelkvale, L.4
Engebretsen, L.F.5
Apold, J.6
-
3
-
-
0032231461
-
A European multicenter study of phenylalanine hydroxylase deficiency: Classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype
-
DOI 10.1086/301920
-
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 prediction of metabolic phenotype. Am J Hum Genet 63:71-79. (Pubitemid 30428320)
-
(1998)
American Journal of Human Genetics
, vol.63
, Issue.1
, pp. 71-79
-
-
Guldberg, P.1
Rey, F.2
Zschocke, J.3
Romano, V.4
Francois, B.5
Michiels, L.6
Ullrich, K.7
Hoffmann, G.F.8
Burgard, P.9
Schmidt, H.10
Meli, C.11
Riva, E.12
Dianzani, I.13
Ponzone, A.14
Rey, J.15
Guttler, F.16
-
4
-
-
0019212423
-
Hyperphenylalaninemia: Diagnosis and classification of the various types of phenylalanine hydroxylase deficiency in childhood
-
Güttler F (1980) Hyperphenylalaninemia: diagnosis and classification of the various types of phenylalanine hydroxylase deficiency. Acta Paediatr Scand Suppl 280:1-80. (Pubitemid 11234642)
-
(1980)
Acta Paediatrica Scandinavica
, vol.69
, Issue.SUPPL.280
-
-
Guttler, F.1
-
5
-
-
0029894295
-
Preliminary studies on the molecular basis of hyperphenylalaninemia in Egypt
-
DOI 10.1007/s004390050150
-
Hashem N, Bosco P, Chiavetta V, et al. (1996) Preliminary studies on the molecular basis of hyperphenylalaninemia in Egypt. Hum Genet 98:3-6. (Pubitemid 26181273)
-
(1996)
Human Genetics
, vol.98
, Issue.1
, pp. 3-6
-
-
Hashem, N.1
Bosco, P.2
Chiavetta, V.3
Cali, F.4
Ceratto, N.5
Romano, V.6
-
7
-
-
0024284028
-
A simple salting out procedure for extracting DNA from human nucleated cells
-
Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215.
-
(1988)
Nucleic Acids Res
, vol.16
, pp. 1215
-
-
Miller, S.A.1
Dykes, D.D.2
Polesky, H.F.3
-
8
-
-
0037387815
-
The molecular basis of phenylketonuria in Latvia
-
Pronina N, Giannattasio S, Lattanzio P, et al. (2003) The molecular basis of phenylketonuria in Latvia. Hum Mutat 21:398-399.
-
(2003)
Hum Mutat
, vol.21
, pp. 398-399
-
-
Pronina, N.1
Giannattasio, S.2
Lattanzio, P.3
-
9
-
-
12444292141
-
Molecular characterization of phenylketonuria in South Brazil
-
DOI 10.1016/S1096-7192(03)00032-5
-
Santana da Silva LC, Carvalho TS, da Silva FB, et al. (2003) Molecular characterization of phenylketonuria in South Brazil. Mol Genet Metab 79:17-24. (Pubitemid 36579437)
-
(2003)
Molecular Genetics and Metabolism
, vol.79
, Issue.1
, pp. 17-24
-
-
Santana Da Silva, L.C.1
Santos Carvalho, T.2
Britto Da Silva, F.3
Morari, L.4
Aguirres Fachel, A.5
Pires, R.6
Farret Refosco, L.7
Desnick, R.J.8
Giugliani, R.9
Saraiva Pereira, M.L.10
-
10
-
-
0000059155
-
The hyperphenylalaninemias
-
Scriver CR, Beaudet A, Sly WS, Valle D, et al. (eds) McGraw-Hill, New York
-
Scriver CR, Kaufman S, Eisensmith RC, et al. (1995) The hyperphenylalaninemias. In: Scriver CR, Beaudet A, Sly WS, Valle D, et al. (eds) The Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill, New York, pp 1015-1075.
-
(1995)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 1015-1075
-
-
Scriver, C.R.1
Kaufman, S.2
Eisensmith, R.C.3
-
11
-
-
0037237526
-
Phenylketonuria mutations in Europe
-
DOI 10.1002/humu.10192
-
Zschocke J (2003) Phenylketonuria mutations in Europe. Hum Mutat 21:345-356. (Pubitemid 36389824)
-
(2003)
Human Mutation
, vol.21
, Issue.4
, pp. 345-356
-
-
Zschocke, J.1
|