-
1
-
-
0020030355
-
Diagnosis of phenylalanine hydroxilase deficiency
-
Berry H. Levy A, Penrose A. Diagnosis of phenylalanine hydroxilase deficiency. Am J Dis Child 1992; 136:111-4.
-
(1992)
Am J Dis Child
, vol.136
, pp. 111-114
-
-
Berry, H.1
Levy, A.2
Penrose, A.3
-
2
-
-
0041845417
-
Phenylketonuria (Foiling disease): The story of its discovery
-
Centerwal WR. Phenylketonuria (Foiling disease): the story of its discovery. J Hist Med 1961;16:292.
-
(1961)
J Hist Med
, vol.16
, pp. 292
-
-
Centerwal, W.R.1
-
3
-
-
0001723792
-
Studies on phenylpiruvic oligophrenia: The position of the metabolic error
-
Jervis GA. Studies on phenylpiruvic oligophrenia: the position of the metabolic error: J Biol Chem 1947; 169:651-6.
-
(1947)
J Biol Chem
, vol.169
, pp. 651-656
-
-
Jervis, G.A.1
-
5
-
-
0027468406
-
Illegitimate transcription of the phenylalanine hydroxilase gene in lymphocytes for identification of mutations in phenylketonuria
-
Abadie V, Jaruzelska J, Lyonnet S, Munnich A, Rey J. Illegitimate transcription of the phenylalanine hydroxilase gene in lymphocytes for identification of mutations in phenylketonuria. Hum Molec Genet 1993;2:31-4.
-
(1993)
Hum Molec Genet
, vol.2
, pp. 31-34
-
-
Abadie, V.1
Jaruzelska, J.2
Lyonnet, S.3
Munnich, A.4
Rey, J.5
-
6
-
-
0030800524
-
A Bayesian model for prediction of mental retardation in newborns
-
Hani S, Mac Dermott S, Ualtorta M. A Bayesian model for prediction of mental retardation in newborns. Res Dev Disabil 1997;18:303-18.
-
(1997)
Res Dev Disabil
, vol.18
, pp. 303-318
-
-
Hani, S.1
Mac Dermott, S.2
Ualtorta, M.3
-
7
-
-
0030941729
-
Reported biomedical causes and associated medical conditions for mental retardation among 10 years-old children in metropolitan Atlanta 1985-1987
-
Yearning M, Murphy CC, Cordero J, Deocoufle P, Hollo well JG. Reported biomedical causes and associated medical conditions for mental retardation among 10 years-old children in metropolitan Atlanta 1985-1987. Dev Med Child Neurol 1997;39:142-9.
-
(1997)
Dev Med Child Neurol
, vol.39
, pp. 142-149
-
-
Yearning, M.1
Murphy, C.C.2
Cordero, J.3
Deocoufle, P.4
Hollo Well, J.G.5
-
9
-
-
52649161469
-
El WISC: Su utilidad diagnostica en nifios con dificultades para aprender
-
Garcia M. El WISC: su utilidad diagnostica en nifios con dificultades para aprender. Bol Psicol 1987;10:123-41.
-
(1987)
Bol Psicol
, vol.10
, pp. 123-141
-
-
Garcia, M.1
-
10
-
-
1542560237
-
Fluorimetric method for the determination of phenylalanine in serum
-
Mac Caman MW and Robins E. Fluorimetric method for the determination of phenylalanine in serum. J Lab Clin Med 1962;59:885-90.
-
(1962)
J Lab Clin Med
, vol.59
, pp. 885-890
-
-
Mac Caman, M.W.1
Robins, E.2
-
11
-
-
52649167467
-
Cognitive funcion in children with epilepsy
-
Addy D. Cognitive funcion in children with epilepsy. Dev Med Child Neurol 1997;24:294-04.
-
(1997)
Dev Med Child Neurol
, vol.24
, pp. 294-304
-
-
Addy, D.1
-
13
-
-
0028229067
-
Growth and skeletal maturation in children with phenylketonuria
-
Schaefen T, Burgard P, Batzler V, Rupp A, Gilli G, Schmith H, et al. Growth and skeletal maturation in children with phenylketonuria. Acta Paediatr 1994;83:534-41.
-
(1994)
Acta Paediatr
, vol.83
, pp. 534-541
-
-
Schaefen, T.1
Burgard, P.2
Batzler, V.3
Rupp, A.4
Gilli, G.5
Schmith, H.6
-
14
-
-
0030744695
-
Intellectual, neurologic and neuropsychologic outcome in untreated subjects with nonphenylketonuria hyperphenylalaninemia
-
German collaborative study on PKU
-
Weglage J, Ullrich K, Pietsch M. Intellectual, neurologic and neuropsychologic outcome in untreated subjects with nonphenylketonuria hyperphenylalaninemia: German collaborative study on PKU. Pediatr Res 1997;42:378-84.
-
(1997)
Pediatr Res
, vol.42
, pp. 378-384
-
-
Weglage, J.1
Ullrich, K.2
Pietsch, M.3
-
15
-
-
52649166951
-
-
La Habana: Ed. Pueblo y Education
-
Berdesco A, Esquivel M, Gutierrez J, Jimenez J, Posada E. Trastornos del desarrollo. 3th ed. La Habana: Ed. Pueblo y Education, 1996;1:97-124.
-
(1996)
Trastornos del Desarrollo. 3th Ed.
, vol.1
, pp. 97-124
-
-
Berdesco, A.1
Esquivel, M.2
Gutierrez, J.3
Jimenez, J.4
Posada, E.5
-
16
-
-
52649105064
-
Untreated non-phenylketonuric hyperphenylalaninemia: Intellectual and neurological outcome
-
Weglaje J, Ulrich K, Pietsch M, Funder B, Zass R, Koch HG. Untreated non-phenylketonuric hyperphenylalaninemia: intellectual and neurological outcome. Eur J Pediatr 1996;55:526-8.
-
(1996)
Eur J Pediatr
, vol.55
, pp. 526-528
-
-
Weglaje, J.1
Ulrich, K.2
Pietsch, M.3
Funder, B.4
Zass, R.5
Koch, H.G.6
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