FALSE POSITIVE ALANINE TOLERANCE-TEST RESULTS IN HETEROZYGOTE DETECTION OF UREA CYCLE DISORDERS

被引：9

作者：

BATSHAW, ML

NAYLOR, EW

THOMAS, GH

机构：

[1] JOHNS HOPKINS UNIV, SCH MED, DEPT PEDIAT, BALTIMORE, MD 21205 USA

[2] JOHNS HOPKINS UNIV, SCH MED, KENNEDY INST, BALTIMORE, MD 21205 USA

[3] W PENN HOSP, DEPT MED GENET, PITTSBURGH, PA USA

来源：

JOURNAL OF PEDIATRICS | 1989年 / 115卷 / 04期

关键词：

D O I：

10.1016/S0022-3476(89)80290-2

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

引用

页码：595 / 598

页数：4

共 14 条

[1] DIAGNOSTIC-VALUE OF OROTIC-ACID EXCRETION IN HERITABLE DISORDERS OF THE UREA CYCLE AND IN HYPERAMMONEMIA DUE TO ORGANIC ACIDURIAS
BACHMANN, C
COLOMBO, JP
[J]. EUROPEAN JOURNAL OF PEDIATRICS, 1980, 134 (02) : 109 - 113
[2] TREATMENT OF CARBAMYL-PHOSPHATE SYNTHETASE DEFICIENCY WITH KETO ANALOGUES OF ESSENTIAL AMINO-ACIDS
BATSHAW, M
BRUSILOW, S
WALSER, M
[J]. NEW ENGLAND JOURNAL OF MEDICINE, 1975, 292 (21) : 1085 - 1090
[3] CEREBRAL-DYSFUNCTION IN ASYMPTOMATIC CARRIERS OF ORNITHINE TRANSCARBAMYLASE DEFICIENCY
BATSHAW, ML
ROAN, Y
JUNG, AL
ROSENBERG, LA
BRUSILOW, SW
[J]. NEW ENGLAND JOURNAL OF MEDICINE, 1980, 302 (09) : 482 - 485
[4] FAILURE OF PROTEIN LOADING TESTS TO IDENTIFY HETEROZYGOSITY FOR ORNITHINE CARBAMOYLTRANSFERASE DEFICIENCY
BECROFT, DMO
BARRY, DMJ
WEBSTER, DR
SIMMONDS, HA
[J]. JOURNAL OF INHERITED METABOLIC DISEASE, 1984, 7 (04) : 157 - 159
[5] ARGININOSUCCINIC ACIDURIA - INVESTIGATION OF AN AFFECTED FAMILY
BILLMEIER, GJ
MOLINARY, SV
WILROY, RS
DUENAS, DA
BRANNON, ME
[J]. JOURNAL OF PEDIATRICS, 1974, 84 (01) : 85 - 89
[6] ALLOPURINOL (AP) INDUCED OROTIDINURIA (ODNU) - TEST OF HETEROZYGOSITY FOR ORNITHINE TRANSCARBAMYLASE (OTC) DEFICIENCY
BRUSILOW, S
VALLE, D
[J]. PEDIATRIC RESEARCH, 1987, 21 (04) : A289 - A289
[7] HYPERARGININEMIA WITH ARGINASE DEFICIENCY
CEDERBAUM, SD
SHAW, KNF
SPECTOR, EB
VERITY, MA
SNODGRASS, PJ
SUGARMAN, GI
[J]. PEDIATRIC RESEARCH, 1979, 13 (07) : 827 - 833
[8] MEASUREMENT OF URINARY PYRIMIDINE-BASES AND NUCLEOSIDES BY HIGH-PERFORMANCE LIQUID-CHROMATOGRAPHY
EVANS, JE
TIECKELMANN, H
NAYLOR, EW
GUTHRIE, R
[J]. JOURNAL OF CHROMATOGRAPHY, 1979, 163 (01): : 29 - 36
[9] CARRIER DETECTION IN ORNITHINE TRANSCARBAMYLASE DEFICIENCY
HOKANSON, JT
OBRIEN, WE
IDEMOTO, J
SCHAFER, IA
[J]. JOURNAL OF PEDIATRICS, 1978, 93 (01) : 75 - 78
[10] CITRULLINEMIA - ENZYMATIC EVIDENCE FOR GENETIC-HETEROGENEITY
KENNAWAY, NG
HARWOOD, PJ
RAMBERG, DA
KOLER, RD
BUIST, NRM
[J]. PEDIATRIC RESEARCH, 1975, 9 (06) : 554 - 558

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