TETRAHYDROBIOPTERIN NONRESPONSIVENESS IN DIHYDROPTERIDINE REDUCTASE DEFICIENCY IS ASSOCIATED WITH THE PRESENCE OF MUTANT PROTEIN

被引：20

作者：

COTTON, RGH ^{[1
]}

JENNINGS, I ^{[1
]}

BRACCO, G ^{[1
]}

PONZONE, A ^{[1
]}

GUARDAMAGNA, O ^{[1
]}

机构：

[1] UNIV TURIN,OSPED INFANTILE REGINA MARGHERITA,PEDIAT CLIN,I-10126 TURIN,ITALY

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 1986年 / 9卷 / 03期

关键词：

D O I：

10.1007/BF01799654

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：239 / 243

页数：5

共 15 条

[1] ARAI N, 1982, PEDIATRICS, V70, P426
[2] ATYPICAL PHENYLKETONURIA DUE TO TETRAHYDROBIOPTERIN DEFICIENCY - DIAGNOSIS AND TREATMENT WITH TETRAHYDROBIOPTERIN, DIHYDROBIOPTERIN AND SEPIAPTERIN
CURTIUS, HC
NIEDERWIESER, A
VISCONTINI, M
OTTEN, A
SCHAUB, J
SCHEIBENREITER, S
SCHMIDT, H
[J]. CLINICA CHIMICA ACTA, 1979, 93 (02) : 251 - 262
[3] MALIGNANT HYPERPHENYLALANINEMIA - CLINICAL-FEATURES, BIOCHEMICAL FINDINGS, AND EXPERIENCE WITH ADMINISTRATION OF BIOPTERINS
DANKS, DM
SCHLESINGER, P
FIRGAIRA, F
COTTON, RGH
WATSON, BM
REMBOLD, H
HENNINGS, G
[J]. PEDIATRIC RESEARCH, 1979, 13 (10) : 1150 - 1155
[4] DANKS DM, 1975, LANCET, V2, P1043
[5] HETEROGENEITY OF THE MOLECULAR DEFECT IN HUMAN DIHYDROPTERIDINE REDUCTASE DEFICIENCY
FIRGAIRA, FA
CHOO, KH
COTTON, RGH
DANKS, DM
[J]. BIOCHEMICAL JOURNAL, 1981, 198 (03) : 677 - 682
[6] MOLECULAR AND IMMUNOLOGICAL COMPARISON OF HUMAN DIHYDROPTERIDINE REDUCTASE IN LIVER, CULTURED FIBROBLASTS AND CONTINUOUS LYMPHOID-CELLS
FIRGAIRA, FA
CHOO, KH
COTTON, RGH
DANKS, DM
[J]. BIOCHEMICAL JOURNAL, 1981, 197 (01) : 45 - 53
[7] HUMAN DIHYDROPTERIDINE REDUCTASE - METHOD FOR THE MEASUREMENT OF ACTIVITY IN CULTURED-CELLS, AND ITS APPLICATION TO MALIGNANT HYPERPHENYLALANINEMIA
FIRGAIRA, FA
COTTON, RGH
DANKS, DM
[J]. CLINICA CHIMICA ACTA, 1979, 95 (01) : 47 - 59
[8] FIRGAIRA FA, 1983, CHEM BIOL PTERIDINES, P771
[9] CLEAVAGE OF STRUCTURAL PROTEINS DURING ASSEMBLY OF HEAD OF BACTERIOPHAGE-T4
LAEMMLI, UK
[J]. NATURE, 1970, 227 (5259) : 680 - +
[10] DIHYDROPTERIDINE REDUCTASE DEFICIENCY - NON-RESPONSE TO ORAL TETRAHYDROBIOPTERIN LOAD TEST
LIPSON, A
YU, J
OHALLORAN, M
POTTER, M
WILKEN, B
[J]. JOURNAL OF INHERITED METABOLIC DISEASE, 1984, 7 (02) : 69 - 71

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