Rubrica iconografica
Fenilchetonuria materna
GRAZIELLA NASSIMBENI
Clinica Pediatrica, IRCCS “Burlo Garofolo”, Trieste
Aprile 1997 - pagg. 251 -253
Parole chiave
Suggerite dall'AI
Classificazione MeSH
Bibliografia
1. Nelson: Microcephaly. Textbook of Pediatrics. Fourteneenth Edition,
1988.
2. Lenke RR, Levy HL: Maternal phenylketonuria and hyperphenylalaninemia. NEJM, 303, 1202-8, 1980.
3. Folling I: The discovery of phenylketonuria. Acta Paed, Suppl 407, 4-10, 1994.
4. Eisensmith RC, Martinez DR, Kuzmin AL et al: Molecular basis of phenylketonuria and a correlation between genotype and phenotype in a heterogeneous southeastern US population. Pediatrics 97, 512- 16, 1996.
5. Jardin LB, Palma-Dias R, Silva LCS et al: Maternal hyperphenylalaninaemia as a cause of microcephaly and mental ritardation. Acta Paediatr 85, 943-6, 1996.
6. Ferraris S, Guardiamagna O, Biasetti S et al: Difetto di diidropteridina reduttasi: il più italiano tra i difetti di tetrabiopterina. RIP 14, 170-77, 1988.
7. Valvasina R, Riva E, Longhi R et al: Studio dell’escrezione urinaria delle pterine in pazienti iperfenilalaninemici e fenilchetonurici. RIP 16, 13-17, 1990.
8. Lipson A, Beuhler B, Bartley J et al: Maternal hyperphenylalaninemia fetal effects. J Ped 104, 216-20, 1984.
9. Levy HL, Waisbren SE: Effects of untreated maternal phenylketonuria and hyperphenylalaninemia on the fetus. NEJM 309, 1269-74, 1983.
10. Superti-Furga A, Steinmann B, Duc G, Gitzelmann R: Maternal phenylketonuria syndrome in cousins caused by mild, unrecognized phenylketonuria in their mothers homozigous for the phenylalanine hydroxylase Arg-261-Gin mutation. Eur J Ped 150, 493-97, 1991.
11. Rohr FJ, Doherty LB, Waisbren SE et al: New England Maternal PKU Project: Prospective study of untreated and treated pregnancies and their outcome. J Ped 110, 391-97, 1987.
12. Report of Medical Research Council Working Party on Phenylketonuria: Recommendations on the dietary management of phenylketonuria. Arch Dis Child 68, 426-27, 1993.
13. Drogari E, Beasley M, Smith J, Lloyd JK: Timing of strict diet in relation to fetal damage in maternal phenylketonuria. Lancet, ii, 927-30, 1987.
14. Thompson GN, Francis DEM, Kirby DM, Compton R: Pregnancy in phenylketonuria: dietary treatment aimed at normalising maternal plasma phenylalanine concentration. Arch Dis Child 66, 1346-49, 1991.
15. Koch R, Levy HL, Matalon R et al: The international collaborative study of maternal phenylketonuria: status report 1994. Acta Paed, Suppl 407, 11-19, 1994.
16. Waisbren SE, Levy HL: Effects of untreated maternal hyperphenylalaninemia on the fetus: Further study of families identified by routine cord blood screening. J Ped 116, 926-29, 1990.
17. Levy HL, Waisbren SE, Lobbregt D et al: Maternal mild hyperphenylalaninemia: an international survey of offspring outcome. Lancet 344, 1589-93, 1994.
18. Bachman RP, Schoen EJ, Backstrom MV et al: Phenylalanine embryopathy in three siblings: implications of maternal diet therapy. AJDC 147, 22-23, 1993.
19. Kudo Y, Boyd CAR: Placental Tyrosine transport and maternal phenylketonuria. Acta Paed 85, 109-10, 1996.
20. Ponzone A: Prevenzione con screening: l’esempio della fenilchetonuria. RIP 14, 596-610, 1988.
2. Lenke RR, Levy HL: Maternal phenylketonuria and hyperphenylalaninemia. NEJM, 303, 1202-8, 1980.
3. Folling I: The discovery of phenylketonuria. Acta Paed, Suppl 407, 4-10, 1994.
4. Eisensmith RC, Martinez DR, Kuzmin AL et al: Molecular basis of phenylketonuria and a correlation between genotype and phenotype in a heterogeneous southeastern US population. Pediatrics 97, 512- 16, 1996.
5. Jardin LB, Palma-Dias R, Silva LCS et al: Maternal hyperphenylalaninaemia as a cause of microcephaly and mental ritardation. Acta Paediatr 85, 943-6, 1996.
6. Ferraris S, Guardiamagna O, Biasetti S et al: Difetto di diidropteridina reduttasi: il più italiano tra i difetti di tetrabiopterina. RIP 14, 170-77, 1988.
7. Valvasina R, Riva E, Longhi R et al: Studio dell’escrezione urinaria delle pterine in pazienti iperfenilalaninemici e fenilchetonurici. RIP 16, 13-17, 1990.
8. Lipson A, Beuhler B, Bartley J et al: Maternal hyperphenylalaninemia fetal effects. J Ped 104, 216-20, 1984.
9. Levy HL, Waisbren SE: Effects of untreated maternal phenylketonuria and hyperphenylalaninemia on the fetus. NEJM 309, 1269-74, 1983.
10. Superti-Furga A, Steinmann B, Duc G, Gitzelmann R: Maternal phenylketonuria syndrome in cousins caused by mild, unrecognized phenylketonuria in their mothers homozigous for the phenylalanine hydroxylase Arg-261-Gin mutation. Eur J Ped 150, 493-97, 1991.
11. Rohr FJ, Doherty LB, Waisbren SE et al: New England Maternal PKU Project: Prospective study of untreated and treated pregnancies and their outcome. J Ped 110, 391-97, 1987.
12. Report of Medical Research Council Working Party on Phenylketonuria: Recommendations on the dietary management of phenylketonuria. Arch Dis Child 68, 426-27, 1993.
13. Drogari E, Beasley M, Smith J, Lloyd JK: Timing of strict diet in relation to fetal damage in maternal phenylketonuria. Lancet, ii, 927-30, 1987.
14. Thompson GN, Francis DEM, Kirby DM, Compton R: Pregnancy in phenylketonuria: dietary treatment aimed at normalising maternal plasma phenylalanine concentration. Arch Dis Child 66, 1346-49, 1991.
15. Koch R, Levy HL, Matalon R et al: The international collaborative study of maternal phenylketonuria: status report 1994. Acta Paed, Suppl 407, 11-19, 1994.
16. Waisbren SE, Levy HL: Effects of untreated maternal hyperphenylalaninemia on the fetus: Further study of families identified by routine cord blood screening. J Ped 116, 926-29, 1990.
17. Levy HL, Waisbren SE, Lobbregt D et al: Maternal mild hyperphenylalaninemia: an international survey of offspring outcome. Lancet 344, 1589-93, 1994.
18. Bachman RP, Schoen EJ, Backstrom MV et al: Phenylalanine embryopathy in three siblings: implications of maternal diet therapy. AJDC 147, 22-23, 1993.
19. Kudo Y, Boyd CAR: Placental Tyrosine transport and maternal phenylketonuria. Acta Paed 85, 109-10, 1996.
20. Ponzone A: Prevenzione con screening: l’esempio della fenilchetonuria. RIP 14, 596-610, 1988.