PSEUDO ARYLSULFATASE-A DEFICIENCY DISORDER - A GENETIC AND BIOCHEMICAL EXPLANATION

被引:0
|
作者
CHANG, PL [1 ]
ROSA, NE [1 ]
VAREY, PA [1 ]
DAVIDSON, RG [1 ]
机构
[1] MCMASTER UNIV,DEPT PEDIAT,HAMILTON L8S 4L8,ONTARIO,CANADA
关键词
D O I
暂无
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:A48 / A48
页数:1
相关论文
共 50 条
  • [21] METACHROMATIC LEUKODYSTROPHY - ARYLSULFATASE-A DEFICIENCY IN SKIN FIBROBLAST CULTURES
    PORTER, MT
    FLUHARTY, AL
    KIHARA, H
    PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1969, 62 (03) : 887 - &
  • [22] DISCRIMINATION BETWEEN METACHROMATIC LEUKODYSTROPHY AND PSEUDO-DEFICIENCY OF ARYLSULFATASE-A BY RESTRICTION DIGEST OF AMPLIFIED GENE FRAGMENTS
    BENYOSEPH, Y
    MITCHELL, DA
    AMERICAN JOURNAL OF THE MEDICAL SCIENCES, 1995, 309 (02) : 88 - 91
  • [23] MULTIPLE SULFATASE DEFICIENCY - DEGRADATION OF ARYLSULFATASE-A AND ARYLSULFATASE-B AFTER ENDOCYTOSIS IN FIBROBLASTS
    STECKEL, F
    HASILIK, A
    VONFIGURA, K
    EUROPEAN JOURNAL OF BIOCHEMISTRY, 1985, 151 (01): : 147 - 152
  • [24] SYNTHESIS AND STABILITY OF ARYLSULFATASE-A AND ARYLSULFATASE-B IN FIBROBLASTS FROM MULTIPLE SULFATASE DEFICIENCY
    STECKEL, F
    HASILIK, A
    VONFIGURA, K
    EUROPEAN JOURNAL OF BIOCHEMISTRY, 1985, 151 (01): : 141 - 145
  • [25] RETINAL-PIGMENT EPITHELIAL DEGENERATION AND ARYLSULFATASE-A DEFICIENCY - REPLY
    WEITER, JJ
    KOLODNY, EH
    FEINGOLD, M
    RAGHAVEN, SS
    AMERICAN JOURNAL OF OPHTHALMOLOGY, 1981, 92 (01) : 137 - 138
  • [26] METACHROMATIC LEUKODYSTROPHY .1. PRENATAL DETECTION OF ARYLSULFATASE-A DEFICIENCY
    VANDERHAGEN, CB
    BORRESEN, AL
    MOLNE, K
    OFTEDAL, G
    BJORO, K
    BERG, K
    CLINICAL GENETICS, 1973, 4 (03) : 256 - 259
  • [27] GENOTYPE-PHENOTYPE RELATIONSHIP IN VARIOUS DEGREES OF ARYLSULFATASE-A DEFICIENCY
    KAPPLER, J
    LEINEKUGEL, P
    CONZELMANN, E
    KLEIJER, WJ
    KOHLSCHUTTER, A
    TONNESEN, T
    ROCHEL, M
    FREYCON, F
    PROPPING, P
    HUMAN GENETICS, 1991, 86 (05) : 463 - 470
  • [28] DIFFUSE-DISSEMINATED SCLEROSIS COMBINED WITH PARTIAL ARYLSULFATASE-A (ASA) DEFICIENCY - MIXED HETEROZYGOSITY OF ASA-DEFICIENCY AND PSEUDO-ASA-DEFICIENCY
    PEIFFER, J
    HARZER, K
    SCHLOTE, W
    NEUROPEDIATRICS, 1984, 15 (02) : 59 - 62
  • [29] TERMINAL 22Q DELETION ASSOCIATED WITH A PARTIAL DEFICIENCY OF ARYLSULFATASE-A
    NARAHARA, K
    TAKAHASHI, Y
    MURAKAMI, M
    TSUJI, K
    YOKOYAMA, Y
    MURAKAMI, R
    NINOMIYA, S
    SEINO, Y
    JOURNAL OF MEDICAL GENETICS, 1992, 29 (06) : 432 - 433
  • [30] PSEUDODEFICIENCY OF ARYLSULFATASE-A - A COMMON GENETIC-POLYMORPHISM WITH POSSIBLE DISEASE IMPLICATIONS
    HOHENSCHUTZ, C
    EICH, P
    FRIEDL, W
    WAHEED, A
    CONZELMANN, E
    PROPPING, P
    HUMAN GENETICS, 1989, 82 (01) : 45 - 48