NEW VARIANT OF MANNOSIDOSIS WITH INCREASED RESIDUAL ENZYMATIC-ACTIVITY AND MILD CLINICAL MANIFESTATION

被引:34
作者
BACH, G
KOHN, G
LASCH, EE
ELMASSRI, M
ORNOY, A
SEKELES, E
LEGUM, C
COHEN, MM
机构
[1] NASR CHILDRENS HOSP,DEPT PEDIAT,GAZA,ISRAEL
[2] HADASSAH UNIV,MED CTR,DEPT ANAT & EMBRYOL,JERUSALEM,ISRAEL
[3] TEL AVIV UNIV,MED CTR,DEPT GENET,TEL AVIV,ISRAEL
[4] ROKACH HOSP,TEL AVIV,ISRAEL
关键词
D O I
10.1203/00006450-197810000-00012
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
引用
收藏
页码:1010 / 1015
页数:6
相关论文
共 18 条
  • [1] MANNOSIDOSIS - CLINICAL, FINE-STRUCTURAL AND BIOCHEMICAL FINDINGS IN 3 CASES
    AUTIO, S
    NORDEN, NE
    OCKERMAN, PA
    RIEKKINEN, P
    RAPOLA, J
    LOUHIMO, T
    [J]. ACTA PAEDIATRICA SCANDINAVICA, 1973, 62 (06): : 555 - 565
  • [2] MANNOSIDOSIS - PHENOTYPE OF A SEVERELY AFFECTED CHILD AND CHARACTERIZATION OF ALPHA-MANNOSIDASE ACTIVITY IN CULTURED FIBROBLASTS FROM PATIENT AND HIS PARENTS
    AYLSWORTH, AS
    TAYLOR, HA
    STUART, CM
    THOMAS, GH
    [J]. JOURNAL OF PEDIATRICS, 1976, 88 (05) : 814 - 818
  • [3] ABNORMAL GANGLIOSIDE ACCUMULATION IN CULTURED FIBROBLASTS FROM PATIENTS WITH MUCOLIPIDOSIS-IV
    BACH, G
    COHEN, MM
    KOHN, G
    [J]. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1975, 66 (04) : 1483 - 1490
  • [4] RESIDUAL ALTERED ALPHA-MANNOSIDASE IN HUMAN MANNOSIDOSIS
    BEAUDET, AL
    NICHOLS, BL
    [J]. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1976, 68 (01) : 292 - 298
  • [5] CONGENITAL CORNEAL CLOUDING WITH ABNORMAL SYSTEMIC STORAGE BODIES - NEW VARIANT OF MUCOLIPIDOSIS
    BERMAN, ER
    LIVNI, N
    SHAPIRA, E
    MERIN, S
    LEVIJ, IS
    [J]. JOURNAL OF PEDIATRICS, 1974, 84 (04) : 519 - 526
  • [6] MANNOSIDOSIS - CLINICAL AND BIOCHEMICAL STUDIES IN A FAMILY OF AFFECTED ADOLESCENTS AND ADULTS
    BOOTH, CW
    CHEN, KK
    NADLER, HL
    [J]. JOURNAL OF PEDIATRICS, 1976, 88 (05) : 821 - 824
  • [7] HUMAN MANNOSIDOSIS - ENZYMIC DEFECT
    CARROLL, M
    ROBINSON, D
    WINCHEST.BG
    MASSON, PK
    DANCE, N
    [J]. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1972, 49 (02) : 579 - &
  • [8] MANNOSIDOSIS - CLINICAL, MORPHOLOGIC, IMMUNOLOGICAL, AND BIOCHEMICAL STUDIES
    DESNICK, RJ
    SHARP, HL
    GRABOWSKI, GA
    BRUNNING, RD
    QUIE, PG
    SUNG, JH
    GORLIN, RJ
    IKONNE, JU
    [J]. PEDIATRIC RESEARCH, 1976, 10 (12) : 985 - 996
  • [9] GEHLER J, 1975, DISORDERS CONNECTIVE, P269
  • [10] MANNOSIDOSIS - NEW CLINICAL PRESENTATION, ENZYME STUDIES, AND CARBOHYDRATE ANALYSIS
    KISTLER, JP
    LOTT, IT
    KOLODNY, EH
    FRIEDMAN, RB
    NERSASIAN, R
    SCHNUR, J
    MIHM, MC
    DVORAK, AM
    DICKERSIN, R
    [J]. ARCHIVES OF NEUROLOGY, 1977, 34 (01) : 45 - 51