AMNIOTIC CELL 4-METHYLUMBELLIFERYL-ALPHA-GLUCOSIDASE ACTIVITY FOR PRENATAL DIAGNOSIS OF POMPES DISEASE

被引：5

作者：

FENSOM, AH

BENSON, PF

BLUNT, S

BROWN, SP

COLTART, TM

机构：

[1] GUYS HOSP, SCH MED, PAEDIAT RES UNIT, LONDON SE1 9RT, ENGLAND

[2] GUYS HOSP, SCH MED, DEPT OBSTET & GYNAECOL, LONDON SE1 9RT, ENGLAND

来源：

JOURNAL OF MEDICAL GENETICS | 1976年 / 13卷 / 02期

关键词：

D O I：

10.1136/jmg.13.2.148

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：148 / 149

页数：2

共 12 条

[1]

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[2] SIMULTANEOUS ABSENCE OF ALPHA-1,4-GLUCOSIDASE AND ALPHA-1,6-GLUCOSIDASE ACTIVITIES (PH 4) IN TISSUES OF CHILDREN WITH TYPE 2 GLYCOGEN STORAGE DISEASE [J].

BROWN, BI ;

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JEFFREY, PL .

BIOCHEMISTRY, 1970, 9 (06) :1423-&

[3] PRENATAL DIAGNOSIS OF GALACTOSEMIA [J].

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BLUNT, S .

BRITISH MEDICAL JOURNAL, 1974, 4 (5941) :386-387

[4] METHOD FOR RAPID PRENATAL DIAGNOSIS OF GLYCOGENOSIS-II (POMPES DISEASE) [J].

GALJAARD, H ;

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DEJOSSEL.JE ;

NIERMEIJER, MF .

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[5] ALPHA-GLUCOSIDASE DEFICIENCY IN GENERALIZED GLYCOGEN-STORAGE DISEASE (POMPES DISEASE) [J].

HERS, HG .

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[6]

HUG G, 1970, LANCET, V1, P1002

[7]

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[8] A 1-STEP ULTRAMICRO METHOD FOR ASSAY OF INTESTINAL DISACCHARIDASES [J].

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ANALYTICAL BIOCHEMISTRY, 1966, 14 (03) :376-+

[9]

NADLER HL, 1969, LANCET, V2, P1277

[10] PRENATAL DIAGNOSIS OF TYPE-II GLYCOGENOSIS (POMPES DISEASE) USING MICROCHEMICAL ANALYSES [J].

NIERMEIJER, MF ;

KOSTER, JF ;

JAHODOVA, M ;

FERNANDES, J ;

HEUKELSDULLY, MJ ;

GALJAARD, H .

PEDIATRIC RESEARCH, 1975, 9 (05) :498-503

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