THE DIAGNOSIS AND BIOCHEMICAL INVESTIGATION OF A PATIENT WITH A SHORT CHAIN FATTY-ACID OXIDATION DEFECT

被引：20

作者：

BENNETT, MJ

GRAY, RGF

ISHERWOOD, DM

MURPHY, N

POLLITT, RJ

机构：

[1] UNIV SHEFFIELD,SUB DEPT MED GENET,SHEFFIELD S10 5DN,ENGLAND

[2] ALDER HEY CHILDRENS HOSP,DEPT BIOCHEM,LIVERPOOL L12 2AP,MERSEYSIDE,ENGLAND

[3] ALDER HEY CHILDRENS HOSP,DEPT PAEDIAT,LIVERPOOL L12 2AP,MERSEYSIDE,ENGLAND

[4] UNIV SHEFFIELD,MIDDLEWOOD HOSP,NEONATAL SCREENING LAB,SHEFFIELD S6 1TP,S YORKSHIRE,ENGLAND

[5] UNIV SHEFFIELD,MIDDLEWOOD HOSP,DEPT PSYCHIAT,SHEFFIELD S6 1TP,S YORKSHIRE,ENGLAND

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 1985年 / 8卷

关键词：

D O I：

10.1007/BF01811496

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：135 / 136

页数：2

共 5 条

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SHAW, L ;

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HULL, D ;

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JOURNAL OF INHERITED METABOLIC DISEASE, 1984, 7 (02) :57-61

[2]

BOUJET C, 1983, 21ST P S SSIEM LYON, pA55

[3]

GREEN A, 1985, J INHERIT METAB DIS, V8, P67, DOI 10.1080/07399019108965002

[4] ETHYLMALONIC-ADIPIC ACIDURIA - INVIVO AND INVITRO STUDIES INDICATING DEFICIENCY OF ACTIVITIES OF MULTIPLE ACYL-COA DEHYDROGENASES [J].

MANTAGOS, S ;

GENEL, M ;

TANAKA, K .

JOURNAL OF CLINICAL INVESTIGATION, 1979, 64 (06) :1580-1589

[5] SHORT-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY ASSOCIATED WITH A LIPID-STORAGE MYOPATHY AND SECONDARY CARNITINE DEFICIENCY [J].

TURNBULL, DM ;

BARTLETT, K ;

STEVENS, DL ;

ALBERTI, KGMM ;

GIBSON, GJ ;

JOHNSON, MA ;

MCCULLOCH, AJ ;

SHERRATT, HSA .

NEW ENGLAND JOURNAL OF MEDICINE, 1984, 311 (19) :1232-1236

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