TYPE-C NIEMANN-PICK DISEASE - CLINICAL AND BIOCHEMICAL-STUDIES ON 6 CASES

被引：12

作者：

OMURA, K

SUZUKI, Y

NOROSE, N

SATO, M

MARUYAMA, K

KOEDA, T

机构：

[1] JUNTENDO UNIV,SCH MED,DEPT PEDIAT,TOKYO 113,JAPAN

[2] KITAKYUSHU CITY SOGO RYOIKU CTR,KITAKYUSHU,JAPAN

[3] NATL CTR NEUROL & PSYCHIAT,NATL INST NEUROSCI,DIV INHERITED METAB DIS,TOKYO,JAPAN

[4] NATL MATSUMOTO HOSP,DEPT PEDIAT,MATSUMOTO,JAPAN

来源：

BRAIN & DEVELOPMENT | 1989年 / 11卷 / 01期

关键词：

D O I：

10.1016/S0387-7604(89)80010-5

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

引用

页码：57 / 61

页数：5

共 19 条

[1] STUDIES ON SPHINGOMYELINASE AND BETA-GLUCOSIDASE ACTIVITIES IN NIEMANN-PICK DISEASE VARIANTS - PHOSPHODIESTERASE ACTIVITIES MEASURED WITH NATURAL AND ARTIFICIAL SUBSTRATES
BESLEY, GTN
MOSS, SE
[J]. BIOCHIMICA ET BIOPHYSICA ACTA, 1983, 752 (01) : 54 - 64
[2] Brady R. O., 1983, METABOLIC BASIS INHE, P831
[3] METABOLISM OF SPHINGOMYELIN .2. EVIDENCE OF AN ENZYMATIC DEFICIENCY IN NIEMANN-PICK DISEASE
BRADY, RO
KANFER, JN
MOCK, MB
FREDRICKSON, DS
[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1966, 55 (02) : 366 - +
[4] REGULATION OF ACTIVITY OF LOW-DENSITY LIPOPROTEIN RECEPTOR IN HUMAN FIBROBLASTS
BROWN, MS
GOLDSTEIN, JL
[J]. CELL, 1975, 6 (03) : 307 - 316
[5] SPHINGOMYELINASES IN HUMAN TISSUES .2. ABSENCE OF A SPECIFIC ENZYME FROM LIVER AND BRAIN OF NIEMANN-PICK DISEASE, TYPE-C
CALLAHAN, JW
KHALIL, M
PHILIPPART, M
[J]. PEDIATRIC RESEARCH, 1975, 9 (12) : 908 - 913
[6] NIEMANN-PICK DISEASE, TYPE-C - EVIDENCE FOR THE DEFICIENCY OF AN ACTIVATING FACTOR STIMULATING SPHINGOMYELIN AND GLUCOCEREBROSIDE DEGRADATION
CHRISTOMANOU, H
[J]. HOPPE-SEYLERS ZEITSCHRIFT FUR PHYSIOLOGISCHE CHEMIE, 1980, 361 (10): : 1489 - 1502
[7] CEREBRAL DEFECT IN TAY-SACHS DISEASE AND NIEMANN-PICK DISEASE
CROCKER, AC
[J]. JOURNAL OF NEUROCHEMISTRY, 1961, 7 (01) : 69 - +
[8] KRUTH HS, 1986, J BIOL CHEM, V261, P6769
[9] EFFECT OF CELL-DENSITY ON BINDING AND UPTAKE OF LOW-DENSITY LIPOPROTEIN BY HUMAN-FIBROBLASTS
KRUTH, HS
AVIGAN, J
GAMBLE, W
VAUGHAN, M
[J]. JOURNAL OF CELL BIOLOGY, 1979, 83 (03) : 588 - 594
[10] LOWRY OH, 1951, J BIOL CHEM, V193, P265

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