-
1
-
-
0029977276
-
Maternal phenlyketonuria: a metabolic teratogen
-
Levy H.L., and Ghavama M. Maternal phenlyketonuria: a metabolic teratogen. Teratology 53 (1996) 176-184
-
(1996)
Teratology
, vol.53
, pp. 176-184
-
-
Levy, H.L.1
Ghavama, M.2
-
2
-
-
0000134296
-
The hyperphenylalaninemias
-
Scriver C.R., Beaudet A.L., Sly W.S., and Valle D. (Eds), McGraw Hill, New York, NY
-
Scriver C.R., Kaufman S., and Woo S.L. The hyperphenylalaninemias. In: Scriver C.R., Beaudet A.L., Sly W.S., and Valle D. (Eds). The metabolic & molecular basis of inherited disease (2001), McGraw Hill, New York, NY
-
(2001)
The metabolic & molecular basis of inherited disease
-
-
Scriver, C.R.1
Kaufman, S.2
Woo, S.L.3
-
3
-
-
0008096149
-
An evaluation of the treatment of phenylketonuria with diets low in phenylalanine
-
Knox W.E. An evaluation of the treatment of phenylketonuria with diets low in phenylalanine. Pediatrics 26 (1960) 1-11
-
(1960)
Pediatrics
, vol.26
, pp. 1-11
-
-
Knox, W.E.1
-
4
-
-
0000386847
-
The variability in manifestations of untreated patients with PKU
-
Paine R.S. The variability in manifestations of untreated patients with PKU. Pediatrics 20 (1957) 290-297
-
(1957)
Pediatrics
, vol.20
, pp. 290-297
-
-
Paine, R.S.1
-
5
-
-
7244237207
-
Variations in intelligence in phenylketonuria
-
Partington M.W. Variations in intelligence in phenylketonuria. CMAJ 86 (1962) 736-743
-
(1962)
CMAJ
, vol.86
, pp. 736-743
-
-
Partington, M.W.1
-
6
-
-
0015221479
-
The natural history of untreated phenylketonuria
-
Pitt D. The natural history of untreated phenylketonuria. Med J Aust 1 (1971) 378-383
-
(1971)
Med J Aust
, vol.1
, pp. 378-383
-
-
Pitt, D.1
-
7
-
-
0014962207
-
Screening the "normal" population in Massachusetts for phenylketonuria
-
Levy H.L., Karolkewicz V., Houghton S.A., and MacCready R.A. Screening the "normal" population in Massachusetts for phenylketonuria. N Engl J Med 282 (1970) 1455-1458
-
(1970)
N Engl J Med
, vol.282
, pp. 1455-1458
-
-
Levy, H.L.1
Karolkewicz, V.2
Houghton, S.A.3
MacCready, R.A.4
-
8
-
-
0013480661
-
Prenatal testing for maternal phenylketonuria (PKU)
-
Hanley W.B. Prenatal testing for maternal phenylketonuria (PKU). Int Pediatr 9 Suppl. 1 (1994) 33-39
-
(1994)
Int Pediatr
, vol.9
, Issue.SUPPL. 1
, pp. 33-39
-
-
Hanley, W.B.1
-
9
-
-
0013552448
-
Zur haufigkeit der phenylketonurie mit narmaler intelligenz
-
Machill V.G., Seidlitz G., Grimm U., and Knapp A. Zur haufigkeit der phenylketonurie mit narmaler intelligenz. Z Klin Med 45 (1990) 1821-1823
-
(1990)
Z Klin Med
, vol.45
, pp. 1821-1823
-
-
Machill, V.G.1
Seidlitz, G.2
Grimm, U.3
Knapp, A.4
-
10
-
-
0014443558
-
Causes for high phenylalanine with normal tyrosine in newborn screening programs
-
Berman J.L., Cunningham G.C., Day R.W., et al. Causes for high phenylalanine with normal tyrosine in newborn screening programs. Am J Dis Child 117 (1969) 54-65
-
(1969)
Am J Dis Child
, vol.117
, pp. 54-65
-
-
Berman, J.L.1
Cunningham, G.C.2
Day, R.W.3
-
11
-
-
36148933083
-
-
Bickle, Hudson, and Woolf (Eds), G (Thyme) Verlag, Stuttgart, Germany
-
Koch R., Acosta P., Shaw K.N.F., et al. In: Bickle, Hudson, and Woolf (Eds). Phenylketonuria and some other inborn errors of metabolism (1971), G (Thyme) Verlag, Stuttgart, Germany 20-25
-
(1971)
Phenylketonuria and some other inborn errors of metabolism
, pp. 20-25
-
-
Koch, R.1
Acosta, P.2
Shaw, K.N.F.3
-
12
-
-
0021040495
-
Effect of untreated maternal phenylketonuria and hyperphenylalinemia on the fetus
-
Levy H.L., and Waisbren S.E. Effect of untreated maternal phenylketonuria and hyperphenylalinemia on the fetus. N Engl J Med 309 (1983) 1269-1274
-
(1983)
N Engl J Med
, vol.309
, pp. 1269-1274
-
-
Levy, H.L.1
Waisbren, S.E.2
-
13
-
-
0021722124
-
Intelligence and personality characteristics in adults with untreated atypical phenylketonuria and mild hyperphenylalaninemia
-
Waisbren S.E., Schnell R.R., and Levy H.L. Intelligence and personality characteristics in adults with untreated atypical phenylketonuria and mild hyperphenylalaninemia. J Pediatr 105 (1984) 955-958
-
(1984)
J Pediatr
, vol.105
, pp. 955-958
-
-
Waisbren, S.E.1
Schnell, R.R.2
Levy, H.L.3
-
14
-
-
0029786186
-
Untreated non-phenylketonuric hyperphenylalaninemia. Intellectual and neurological outcome
-
Weglage J., Ullrich K., Pietsch M., Funders B., Zass R., and Koch H.G. Untreated non-phenylketonuric hyperphenylalaninemia. Intellectual and neurological outcome. Eur J Pediatr 155 Suppl. 1 (1996) S26-S28
-
(1996)
Eur J Pediatr
, vol.155
, Issue.SUPPL. 1
-
-
Weglage, J.1
Ullrich, K.2
Pietsch, M.3
Funders, B.4
Zass, R.5
Koch, H.G.6
-
15
-
-
0034125090
-
Neuropsychological function in mild hyperphenylalaninemia
-
Smith M.L., Saltzman J., Klim P., Hanley W.B., Feigenbaum A., and Clarke J.T.R. Neuropsychological function in mild hyperphenylalaninemia. Am J Ment Retard 105 (2000) 69-80
-
(2000)
Am J Ment Retard
, vol.105
, pp. 69-80
-
-
Smith, M.L.1
Saltzman, J.2
Klim, P.3
Hanley, W.B.4
Feigenbaum, A.5
Clarke, J.T.R.6
-
16
-
-
0028243835
-
Feto-maternal plasma phenylalanine concentration gradient from 19 weeks gestation to term
-
Schoonheyt W.E., Clarke J.T.R., Hanley W.B., Johnson J.M., and Lehotay D.C. Feto-maternal plasma phenylalanine concentration gradient from 19 weeks gestation to term. Clin Chim Acta 225 (1994) 165-169
-
(1994)
Clin Chim Acta
, vol.225
, pp. 165-169
-
-
Schoonheyt, W.E.1
Clarke, J.T.R.2
Hanley, W.B.3
Johnson, J.M.4
Lehotay, D.C.5
-
17
-
-
0031975526
-
In vivo NMR spectroscopy in patients with phenylketonuria: clinical significance of interindividual differences in brain phenylalanine concentrations
-
Weglage J., Moller H.E., Wiederman D., Cipic-Schmidt S., Zschocke J., and Ullrich K. In vivo NMR spectroscopy in patients with phenylketonuria: clinical significance of interindividual differences in brain phenylalanine concentrations. J Inherit Metab Dis 21 (1998) 81-82
-
(1998)
J Inherit Metab Dis
, vol.21
, pp. 81-82
-
-
Weglage, J.1
Moller, H.E.2
Wiederman, D.3
Cipic-Schmidt, S.4
Zschocke, J.5
Ullrich, K.6
-
18
-
-
0033967981
-
Brain phenylalanine concentration in the management of adults with phenylketonuria
-
Moats R.A., Koch R., Moseley K., et al. Brain phenylalanine concentration in the management of adults with phenylketonuria. J Inherit Metab Dis 23 (2000) 7-14
-
(2000)
J Inherit Metab Dis
, vol.23
, pp. 7-14
-
-
Moats, R.A.1
Koch, R.2
Moseley, K.3
-
19
-
-
0025146827
-
Undiagnosed phenylketonuria in adult women: a hidden public health problem
-
Hanley W.B., Clarke J.T.R., and Schoonheyt W.E. Undiagnosed phenylketonuria in adult women: a hidden public health problem. CMAJ 143 (1990) 513-516
-
(1990)
CMAJ
, vol.143
, pp. 513-516
-
-
Hanley, W.B.1
Clarke, J.T.R.2
Schoonheyt, W.E.3
-
20
-
-
0032937137
-
Undiagnosed maternal phenylketonuria: the need for prenatal selective screening or case finding
-
Hanley W.B., Platt L.D., Bachman R.P., et al. Undiagnosed maternal phenylketonuria: the need for prenatal selective screening or case finding. Am J Obstet Gynecol 180 (1999) 986-994
-
(1999)
Am J Obstet Gynecol
, vol.180
, pp. 986-994
-
-
Hanley, W.B.1
Platt, L.D.2
Bachman, R.P.3
-
21
-
-
0032199038
-
Diagnosis of phenylketonuria in a 35-year-old mother in relation to prenatal diagnosis of intrauterine growth retardation with mental retardation
-
Thibaud D., Ploussard J.P., Vaquant P.O., Chemouny S., and Kleitz T. Diagnosis of phenylketonuria in a 35-year-old mother in relation to prenatal diagnosis of intrauterine growth retardation with mental retardation. Arch Pediatr 5 (1998) 1229-1231
-
(1998)
Arch Pediatr
, vol.5
, pp. 1229-1231
-
-
Thibaud, D.1
Ploussard, J.P.2
Vaquant, P.O.3
Chemouny, S.4
Kleitz, T.5
-
22
-
-
41249097197
-
-
Irish & American Paediatric Society, Belfast, Ireland [Abstract]
-
Ramesh K.K. Undiagnosed maternal PKU (September 27-October 1, 2000), Irish & American Paediatric Society, Belfast, Ireland [Abstract]
-
(2000)
Undiagnosed maternal PKU
-
-
Ramesh, K.K.1
-
23
-
-
0032826733
-
Embryonic pathology caused by maternal phenylketonuria. A cause of undiagnosed mental retardation. A report of 8 cases
-
Campistol P.J., Arellano P.M., Poo A.P., Escofet S.C., Perez O.P., and Vilaseca B.M.A. Embryonic pathology caused by maternal phenylketonuria. A cause of undiagnosed mental retardation. A report of 8 cases. An Esp Pediatr 51 (1999) 139-142
-
(1999)
An Esp Pediatr
, vol.51
, pp. 139-142
-
-
Campistol, P.J.1
Arellano, P.M.2
Poo, A.P.3
Escofet, S.C.4
Perez, O.P.5
Vilaseca, B.M.A.6
-
24
-
-
0033373002
-
Late diagnosis of maternal PKU in a family segregating an arylsulfatase [corrected] E mutation causing chondrodysplasia punctata
-
Dahl H.H., Osborn A.H., Hutchison W.M., Thorburn D.R., and Sheffield L.J. Late diagnosis of maternal PKU in a family segregating an arylsulfatase [corrected] E mutation causing chondrodysplasia punctata. Mol Genet Metab 68 (1999) 503-506
-
(1999)
Mol Genet Metab
, vol.68
, pp. 503-506
-
-
Dahl, H.H.1
Osborn, A.H.2
Hutchison, W.M.3
Thorburn, D.R.4
Sheffield, L.J.5
-
25
-
-
26444443837
-
A four year observation of three boys with maternal PKU syndrome
-
[Abstract]
-
Starostecka E., Lange A., Piotrowicz M., and Pryzgocka J. A four year observation of three boys with maternal PKU syndrome. J Inherit Metab Dis 24 Suppl. 1 (2001) 17 [Abstract]
-
(2001)
J Inherit Metab Dis
, vol.24
, Issue.SUPPL. 1
, pp. 17
-
-
Starostecka, E.1
Lange, A.2
Piotrowicz, M.3
Pryzgocka, J.4
-
26
-
-
20444389690
-
An exceptional Albanian family with seven children presenting with dysmorphic features and mental retardation: maternal phenylketonuria
-
Knerr I., Zschocke J., Schellmoser S., et al. An exceptional Albanian family with seven children presenting with dysmorphic features and mental retardation: maternal phenylketonuria. BMC Pediatr 5 (2005) 5-8
-
(2005)
BMC Pediatr
, vol.5
, pp. 5-8
-
-
Knerr, I.1
Zschocke, J.2
Schellmoser, S.3
-
27
-
-
33846531896
-
Maternal hyperphenylalaninemia syndrome: neuropsychological evaluation of four subjects during childhood and adolescence
-
Corsello G., Cicero L., Giuffre M., et al. Maternal hyperphenylalaninemia syndrome: neuropsychological evaluation of four subjects during childhood and adolescence. Minerva Pediatr 58 (2006) 557-569
-
(2006)
Minerva Pediatr
, vol.58
, pp. 557-569
-
-
Corsello, G.1
Cicero, L.2
Giuffre, M.3
-
28
-
-
4544361506
-
Learning and behavioral difficulties but not microcephaly in three brothers resulting from undiagnosed maternal phenylketonuria
-
Shaw-Smith C., Hogg S.L., Reading R., Calvin J., and Trump D. Learning and behavioral difficulties but not microcephaly in three brothers resulting from undiagnosed maternal phenylketonuria. Child Care Health Dev 5 (2004) 551-558
-
(2004)
Child Care Health Dev
, vol.5
, pp. 551-558
-
-
Shaw-Smith, C.1
Hogg, S.L.2
Reading, R.3
Calvin, J.4
Trump, D.5
-
29
-
-
0033396099
-
Current status of newborn screening in China
-
Gu X.F., and Chen R.G. Current status of newborn screening in China. J Med Screen 6 (1999) 186-187
-
(1999)
J Med Screen
, vol.6
, pp. 186-187
-
-
Gu, X.F.1
Chen, R.G.2
-
30
-
-
33750128386
-
-
Statistics Canada 2004. Quoted in CMAJ 2006;175:862.
-
Statistics Canada 2004. Quoted in CMAJ 2006;175:862.
-
-
-
-
31
-
-
0036179164
-
Delayed childbearing and its impact on population rate changes in low birth weight, multiple births, and preterm delivery
-
Tough S.C., Newburn-Cook C., Johnston D.W., Svenson L.W., Rose S., and Belik J. Delayed childbearing and its impact on population rate changes in low birth weight, multiple births, and preterm delivery. Pediatrics 109 (2002) 399-403
-
(2002)
Pediatrics
, vol.109
, pp. 399-403
-
-
Tough, S.C.1
Newburn-Cook, C.2
Johnston, D.W.3
Svenson, L.W.4
Rose, S.5
Belik, J.6
-
32
-
-
33947115795
-
Annual summary of vital statistics: 2005
-
Hamilton B.E., Minino A.M., Martin J.A., Kochanek K.D., Strobino D.M., and Guyer B. Annual summary of vital statistics: 2005. Pediatrics 119 (2007) 345-360
-
(2007)
Pediatrics
, vol.119
, pp. 345-360
-
-
Hamilton, B.E.1
Minino, A.M.2
Martin, J.A.3
Kochanek, K.D.4
Strobino, D.M.5
Guyer, B.6
-
34
-
-
0034790129
-
National Institutes of Health Development Panel
-
National Institutes of Health Consensus Development Statement: Phenylketonuria. National Institutes of Health Development Panel. Pediatrics 108 (2001) 972-982
-
(2001)
Pediatrics
, vol.108
, pp. 972-982
-
-
-
35
-
-
0033929488
-
Increased risk of vitamin B12 deficiency in patients with phenylketonuria on an unrestricted or relaxed diet
-
Robinson M., White F.J., Cleary M.A., Wraith E., Lam W.K., and Walter J.H. Increased risk of vitamin B12 deficiency in patients with phenylketonuria on an unrestricted or relaxed diet. J Pediatr 136 (2000) 545-547
-
(2000)
J Pediatr
, vol.136
, pp. 545-547
-
-
Robinson, M.1
White, F.J.2
Cleary, M.A.3
Wraith, E.4
Lam, W.K.5
Walter, J.H.6
-
36
-
-
0029806906
-
Care of the adult with phenylketonuria
-
Koch R., Azen C., Friedman E.G., Fishler K., Bauman-Frischling C., and Lin T. Care of the adult with phenylketonuria. Eur J Pediatr 155 Suppl. 1 (1996) S90-S92
-
(1996)
Eur J Pediatr
, vol.155
, Issue.SUPPL. 1
-
-
Koch, R.1
Azen, C.2
Friedman, E.G.3
Fishler, K.4
Bauman-Frischling, C.5
Lin, T.6
-
37
-
-
0036744719
-
Phenylketonuria in adulthood: a collaborative study
-
Koch R., Burton B., Hoganson G., et al. Phenylketonuria in adulthood: a collaborative study. J Inherit Metab Dis 25 (2002) 333-346
-
(2002)
J Inherit Metab Dis
, vol.25
, pp. 333-346
-
-
Koch, R.1
Burton, B.2
Hoganson, G.3
-
38
-
-
0030955068
-
Phenylketonuria: current dietary treatment practices in the United States and Canada
-
Fisch R.O., Matelon R., Weisberg S., and Michals K. Phenylketonuria: current dietary treatment practices in the United States and Canada. J Am Coll Nutr 16 (1997) 147-151
-
(1997)
J Am Coll Nutr
, vol.16
, pp. 147-151
-
-
Fisch, R.O.1
Matelon, R.2
Weisberg, S.3
Michals, K.4
-
40
-
-
41249095424
-
Twenty-two years later: California's maternal PKU program
-
Skells M.R., Buist M.R.M., and Tuerk J.M. (Eds). Portland, Ore, May 22-25
-
Ahn S.S., Cunningham G.C., and Mordaunt V.L. Twenty-two years later: California's maternal PKU program. In: Skells M.R., Buist M.R.M., and Tuerk J.M. (Eds). Proceedings of the neonatal screening symposium. Portland, Ore, May 22-25 (1988) 139-140
-
(1988)
Proceedings of the neonatal screening symposium
, pp. 139-140
-
-
Ahn, S.S.1
Cunningham, G.C.2
Mordaunt, V.L.3
-
41
-
-
41249091525
-
-
Gill AE, Amador PS. A retrospective of newborn screening for PKU in New York State 1965-1986, In: Skells MR, Buist MRM Tuerk KM, editors. Proccedings of the national screening symposium. p. 133-4.
-
Gill AE, Amador PS. A retrospective of newborn screening for PKU in New York State 1965-1986, In: Skells MR, Buist MRM Tuerk KM, editors. Proccedings of the national screening symposium. p. 133-4.
-
-
-
-
42
-
-
0023935328
-
The New England maternal PKU project: identification of at risk women
-
Waisbren S.E., Doherty L.B., Bailey I.V., et al. The New England maternal PKU project: identification of at risk women. Am J Public Health 78 (1988) 789-792
-
(1988)
Am J Public Health
, vol.78
, pp. 789-792
-
-
Waisbren, S.E.1
Doherty, L.B.2
Bailey, I.V.3
|