Prenatal diagnosis of Canavan disease - Problems and dilemmas

被引：8

作者：

Besley, GTN ^{[1
]}

Elpeleg, ON

Shaag, A

Manning, NJ

Jakobs, C

Walter, JH

机构：

[1] Royal Manchester Childrens Hosp, Willink Biochem Genet Unit, Manchester M27 4HA, Lancs, England

[2] Shaare Zedek Med Ctr, Metab Dis Unit, Jerusalem, Israel

[3] Sheffield Childrens Hosp, Neonatal Screening Lab, Sheffield, S Yorkshire, England

[4] Free Univ Amsterdam Hosp, Dept Clin Chem, Metab Unit, Amsterdam, Netherlands

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 1999年 / 22卷 / 03期

关键词：

D O I：

10.1023/A:1005534105933

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：263 / 266

页数：4

共 7 条

[1] RELIABLE PRENATAL-DIAGNOSIS OF CANAVAN DISEASE (ASPARTOACYLASE DEFICIENCY) - COMPARISON OF ENZYMATIC AND METABOLITE ANALYSIS [J].

BENNETT, MJ ;

GIBSON, KM ;

SHERWOOD, WG ;

DIVRY, P ;

ROLLAND, MO ;

ELPELEG, ON ;

RINALDO, P ;

JAKOBS, C .

JOURNAL OF INHERITED METABOLIC DISEASE, 1993, 16 (05) :831-836

[2] Gene trial in New Zealand [J].

During, MJ .

LANCET, 1996, 348 (9027) :618-618

[3] PRENATAL DETECTION OF CANAVAN DISEASE (ASPARTOACYLASE DEFICIENCY) BY DNA ANALYSIS [J].

ELPELEG, ON ;

SHAAG, A ;

ANIKSTER, Y ;

JAKOBS, C .

JOURNAL OF INHERITED METABOLIC DISEASE, 1994, 17 (06) :664-666

[4] STABLE ISOTOPE-DILUTION ANALYSIS OF N-ACETYLASPARTIC ACID IN CSF, BLOOD, URINE AND AMNIOTIC-FLUID - ACCURATE POSTNATAL DIAGNOSIS AND THE POTENTIAL FOR PRENATAL-DIAGNOSIS OF CANAVAN DISEASE [J].

JAKOBS, C ;

TENBRINK, HJ ;

LANGELAAR, SA ;

ZEE, T ;

STELLAARD, F ;

MACEK, M ;

SRSNOVA, K ;

SRSEN, S ;

KLEIJER, WJ .

JOURNAL OF INHERITED METABOLIC DISEASE, 1991, 14 (05) :653-660

[5] PRENATAL DETECTION OF CANAVAN DISEASE BY MEASUREMENT OF N-ACETYL-L-ASPARTATE IN AMNIOTIC-FLUID [J].

KELLEY, RI .

JOURNAL OF INHERITED METABOLIC DISEASE, 1993, 16 (05) :918-919

[6] CANAVAN DISEASE - FROM SPONGY DEGENERATION TO MOLECULAR ANALYSIS [J].

MATALON, R ;

MICHALS, K ;

KAUL, R .

JOURNAL OF PEDIATRICS, 1995, 127 (04) :511-517

[7] UNRELIABLE VERIFICATION OF PRENATAL-DIAGNOSIS OF CANAVAN DISEASE - ASPARTOACYLASE ACTIVITY IN DEFICIENT AND NORMAL FETAL SKIN FIBROBLASTS [J].

ROLLAND, MO ;

MANDON, G ;

BERNARD, A ;

ZABOT, MT ;

MATHIEU, M .

JOURNAL OF INHERITED METABOLIC DISEASE, 1994, 17 (06) :748-748

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