NIEMANN-PICK DISEASE TYPE-B - ENZYMATICALLY CONFIRMED CASE WITH UNEXPECTED RETINAL INVOLVEMENT

被引：18

作者：

HARZER, K

RUPRECHT, KW

SEUFFERSCHULZE, D

JANS, U

机构：

[1] UNIV TUBINGEN, AUGEN KLIN, D-7400 TUBINGEN 1, FED REP GER

[2] STADT KINDERKLINIK STUTTGART, D-7000 STUTTGART, FED REP GER

来源：

ALBRECHT VON GRAEFES ARCHIV FUR KLINISCHE UND EXPERIMENTELLE OPHTHALMOLOGIE | 1978年 / 206卷 / 02期

关键词：

D O I：

10.1007/BF00414616

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

引用

页码：79 / 88

页数：10

共 15 条

[1] THE ASSAY OF ARYLSULPHATASE-A AND ARYLSULPHATASE-B IN HUMAN URINE [J].

BAUM, H ;

DODGSON, KS ;

SPENCER, B .

CLINICA CHIMICA ACTA, 1959, 4 (03) :453-455

[2]

COGAN DG, 1968, ARCH OPHTHALMOL-CHIC, V79, P437

[3] CEREBRAL DEFECT IN TAY-SACHS DISEASE AND NIEMANN-PICK DISEASE [J].

CROCKER, AC .

JOURNAL OF NEUROCHEMISTRY, 1961, 7 (01) :69-+

[4] NIEMANN-PICK DISEASE (TYPE-C) - HISTOPATHOLOGY AND ULTRASTRUCTURE [J].

EMERY, JM ;

GREEN, WR ;

HUFF, DS ;

SLOAN, HR .

AMERICAN JOURNAL OF OPHTHALMOLOGY, 1972, 74 (06) :1144-1154

[5]

FREDRICKSON DS, 1972, METABOLIC BASIS INHE, P783

[6] SIMPLE SPHINOGOMYELINASE DETERMINATION FOR NIEMANN-PICK DISEASE - DIFFERENTIAL DIAGNOSIS OF TYPES A, B AND C [J].

HARZER, K ;

BENZ, HU .

JOURNAL OF NEUROCHEMISTRY, 1973, 21 (04) :999-&

[7] PRENATAL DIAGNOSIS OF GLOBOID-CELL LEUKODYSTROPHY (KRABBES DISEASE) [J].

HARZER, K ;

BENZ, HU ;

KNORRGARTNER, H ;

JONATHA, WD ;

KNORR, K .

DEUTSCHE MEDIZINISCHE WOCHENSCHRIFT, 1976, 101 (21) :821-824

[8] AGED-DEPENDENT VARIATIONS OF HUMAN N-ACETYL-BETA-D-HEXOSAMINIDASES [J].

HARZER, K ;

SANDHOFF, K .

JOURNAL OF NEUROCHEMISTRY, 1971, 18 (11) :2041-&

[9] RESOLUTION OF TISSUE SPHINGOMYELINASE ISOELECTRIC PROFILE IN MULTIPLE COMPONENTS IS EXTRACTION-DEPENDENT - EVIDENCE FOR A COMPONENT DEFECT IN NIEMANN-PICK DISEASE TYPE-C IS SPURIOUS [J].

HARZER, K ;

ANZIL, AP ;

SCHUSTER, I .

JOURNAL OF NEUROCHEMISTRY, 1977, 29 (06) :1155-1157

[10] DIAGNOSIS OF GAUCHERS DISEASE AND NIEMANN-PICK DISEASE WITH SMALL SAMPLES OF VENOUS BLOOD [J].

KAMPINE, JP ;

BRADY, RO ;

KANFER, JN ;

FELD, M ;

SHAPIRO, D .

SCIENCE, 1967, 155 (3758) :86-&

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