THE MOLECULAR-BASIS OF THE HETEROGENEITY IN PHENYLKETONURIA

[11] HYPERPHENYLALANINEMIA DUE TO DIHYDROPTERDINE REDUCTASE DEFICIENCY [J]. EUROPEAN JOURNAL OF PEDIATRICS, 1978, 129 (02) : 93 - 98

[12] BLOOD SCREENING FOR PHENYLKETONURIA [J]. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 1961, 178 (08): : 863 - &

[13] JERVIS GA, 1953, P SOC EXP BIOL MED, V82, P514

[14] KAUFMAN S, 1967, J BIOL CHEM, V242, P3934

[15] PHENYLALANINE HYDROXYLASE-ACTIVITY IN LIVER BIOPSIES FROM HYPERPHENYLALANINEMIA HETEROZYGOTES - DEVIATION FROM PROPORTIONALITY WITH GENE DOSAGE [J]. PEDIATRIC RESEARCH, 1975, 9 (08) : 632 - 634

[16] PHENYLKETONURIA DUE TO A DEFICIENCY OF DIHYDROPTERIDINE REDUCTASE [J]. NEW ENGLAND JOURNAL OF MEDICINE, 1975, 293 (16) : 785 - 790

[17] KAUFMAN S, 1957, J BIOL CHEM, V226, P511

[18] NIEDERWIESER A, 1979, LANCET, V1, P131

[19] REY F, 1976, NEW ENGL J MED, V295, P1138

[20] ATYPICAL PHENYLKETONURIA ACCOMPANIED BY A SEVERE PROGRESSIVE NEUROLOGICAL ILLNESS UNRESPONSIVE TO DIETARY TREATMENT [J]. ARCHIVES OF DISEASE IN CHILDHOOD, 1974, 49 (03) : 245 - 245

[11] HYPERPHENYLALANINEMIA DUE TO DIHYDROPTERDINE REDUCTASE DEFICIENCY [J]. EUROPEAN JOURNAL OF PEDIATRICS, 1978, 129 (02) : 93 - 98

[12] BLOOD SCREENING FOR PHENYLKETONURIA [J]. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 1961, 178 (08): : 863 - &

[13] JERVIS GA, 1953, P SOC EXP BIOL MED, V82, P514

[14] KAUFMAN S, 1967, J BIOL CHEM, V242, P3934

[15] PHENYLALANINE HYDROXYLASE-ACTIVITY IN LIVER BIOPSIES FROM HYPERPHENYLALANINEMIA HETEROZYGOTES - DEVIATION FROM PROPORTIONALITY WITH GENE DOSAGE [J]. PEDIATRIC RESEARCH, 1975, 9 (08) : 632 - 634

[16] PHENYLKETONURIA DUE TO A DEFICIENCY OF DIHYDROPTERIDINE REDUCTASE [J]. NEW ENGLAND JOURNAL OF MEDICINE, 1975, 293 (16) : 785 - 790

[17] KAUFMAN S, 1957, J BIOL CHEM, V226, P511

[18] NIEDERWIESER A, 1979, LANCET, V1, P131

[19] REY F, 1976, NEW ENGL J MED, V295, P1138

[20] ATYPICAL PHENYLKETONURIA ACCOMPANIED BY A SEVERE PROGRESSIVE NEUROLOGICAL ILLNESS UNRESPONSIVE TO DIETARY TREATMENT [J]. ARCHIVES OF DISEASE IN CHILDHOOD, 1974, 49 (03) : 245 - 245