Mevalonate kinase deficiency in a dizygotic twin with mild mevalonic aciduria

被引：10

作者：

Gibson, KM

Hoffmann, GF

Sweetman, L

Buckingham, B

机构：

[1] BAYLOR UNIV,MED CTR,DALLAS,TX

[2] UNIV TEXAS,SW MED CTR,DEPT NEUROL,DALLAS,TX 75235

[3] UNIV MARBURG,DEPT NEUROPEDIAT & METAB DIS,CHILDRENS HOSP,MARBURG,GERMANY

[4] UNIV SO CALIF,SCH MED,LOS ANGELES,CA 90089

[5] CHILDRENS HOSP LOS ANGELES,DIV BIOCHEM GENET,DEPT PEDIAT,LOS ANGELES,CA 90027

[6] CHILDRENS HOSP ORANGE CTY,DEPT ENDOCRINOL & METAB,IRVINE,CA

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 1997年 / 20卷 / 03期

关键词：

D O I：

10.1023/A:1005394315300

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：391 / 394

页数：4

共 6 条

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[4]

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[5] FACTS AND ARTIFACTS IN MEVALONIC ACIDURIA - DEVELOPMENT OF A STABLE ISOTOPE-DILUTION GCMS ASSAY FOR MEVALONIC ACID AND ITS APPLICATION TO PHYSIOLOGICAL FLUIDS, TISSUE SAMPLES, PRENATAL-DIAGNOSIS AND CARRIER DETECTION [J].

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SWEETMAN, L ;

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[6]

Sweetman L., 1991, Techniques in Diagnostic Human Biochemical Genetics: A Laboratory Manual, P143

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