ORNITHINE TRANSCARBAMYLASE DEFICIENCY - ENZYME STUDIES ON A FURTHER CASE AND A METHOD OF DIAGNOSIS USING PLASMA ENZYME RATIOS

被引：13

作者：

GRAY, RGF

BLACK, JA

LYONS, VH

POLLITT, RJ

机构：

[1] SHEFFIELD CHILDRENS HOSP,SHEFFIELD,ENGLAND

[2] UNIV SHEFFIELD,MRC METAB STUDIES PSYCHIAT UNIT,SHEFFIELD S10 2TN,YORKSHIRE,ENGLAND

来源：

PEDIATRIC RESEARCH | 1976年 / 10卷 / 11期

关键词：

D O I：

10.1203/00006450-197611000-00003

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

引用

页码：918 / 923

页数：6

共 33 条

[1] ORNITHINE TRANSCARBAMYLASE, AN ISOELECTRIC POINT (PI) ISOZYME IN HUMAN LIVER AND ITS DEFICIENCY [J].

ARASHIMA, S ;

MATSUDA, I .

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1971, 45 (01) :145-&

[2]

BROHULT J, 1969, ACTA MED SCAND, V185, P357

[3]

BROWN GW, 1959, J BIOL CHEM, V234, P1769

[4] L-LYSINE DEHYDROGENASE DEFICIENCY IN A PATIENT WITH CONGENITAL LYSINE INTOLERANCE [J].

BURGI, W ;

RICHTERICH, R ;

COLOMBO, JP .

NATURE, 1966, 211 (5051) :854-+

[5] ORNITHINE TRANSCARBAMYLASE DEFICIENCY - A CAUSE OF LETHAL NEONATAL HYPERAMMONEMIA IN MALES [J].

CAMPBELL, AG ;

ROSENBERG, LE ;

SNODGRASS, PJ ;

NUZUM, CT .

NEW ENGLAND JOURNAL OF MEDICINE, 1973, 288 (01) :1-6

[6] ORNITHINE CARBAMYL TRANSFERASE - EFFECTS OF PH ON KINETICS OF A MUTANT HUMAN ENZYME [J].

CATHELINEAU, L ;

SAUDUBRAY, JM ;

POLONOVSKI, C .

CLINICA CHIMICA ACTA, 1972, 41 (01) :305-+

[7]

CATHELINEAU L, 1972, ARCH FR PEDIATR, V29, P713

[8]

CATHELINEAU L, 1973, ANN GENET-PARIS, V16, P173

[9]

Cathelineau L, 1974, Pediatr Res, V8, P857, DOI 10.1203/00006450-197410000-00008

[10] OPTIMAL CONDITIONS FOR ORNITHINE CARBAMYL TRANSFERASE DETERMINATION - SIMPLE MICROMETHOD WITHOUT DEPROTEINIZATION [J].

CERIOTTI, G .

CLINICA CHIMICA ACTA, 1973, 47 (01) :97-105

← 1 2 3 4 →