Gaucher disease plus

被引:4
作者
Sidransky, E
Ginns, EI
机构
关键词
D O I
10.1136/jmg.34.10.876-a
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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页码:876 / 877
页数:2
相关论文
共 13 条
[1]   GAUCHERS-DISEASE VARIANT CHARACTERIZED BY PROGRESSIVE CALCIFICATION OF HEART-VALVES AND UNIQUE GENOTYPE [J].
ABRAHAMOV, A ;
ELSTEIN, D ;
GROSSTSUR, V ;
FARBER, B ;
GLASER, Y ;
HADASHALPERN, I ;
RONEN, S ;
TAFAKJDI, M ;
HOROWITZ, M ;
ZIMRAN, A .
LANCET, 1995, 346 (8981) :1000-1003
[2]   1342C MUTATION IN GAUCHERS-DISEASE [J].
BEUTLER, E ;
KATTAMIS, C ;
SIPE, J ;
LIPSON, M .
LANCET, 1995, 346 (8990) :1637-1637
[3]   UNUSUAL EXPRESSION OF GAUCHERS-DISEASE - CARDIOVASCULAR CALCIFICATIONS IN 3 SIBS HOMOZYGOUS FOR THE D409H MUTATION [J].
CHABAS, A ;
CORMAND, B ;
GRINBERG, D ;
BURGUERA, JM ;
BALCELLS, S ;
MERINO, JL ;
MATE, I ;
SOBRINO, JA ;
GONZALEZDUARTE, R ;
VILAGELIU, L .
JOURNAL OF MEDICAL GENETICS, 1995, 32 (09) :740-742
[4]   Pulmonary hypertension developing after alglucerase therapy in two patients with type 1 Gaucher disease complicated by the hepatopulmonary syndrome [J].
Dawson, A ;
Elias, DJ ;
Rubenson, D ;
Bartz, SH ;
Garver, PR ;
Kay, AC ;
Bloor, CM ;
Beutler, E .
ANNALS OF INTERNAL MEDICINE, 1996, 125 (11) :901-904
[5]   Structure and organization of the human metaxin gene (MTX) and pseudogene [J].
Long, GL ;
Winfield, S ;
Adolph, KW ;
Ginns, EI ;
Bornstein, P .
GENOMICS, 1996, 33 (02) :177-184
[6]  
Neudorfer O, 1996, QJM-MON J ASSOC PHYS, V89, P691
[7]   GAUCHER DISEASE IN THE NEONATE - A DISTINCT GAUCHER PHENOTYPE IS ANALOGOUS TO A MOUSE MODEL CREATED BY TARGETED DISRUPTION OF THE GLUCOCEREBROSIDASE GENE [J].
SIDRANSKY, E ;
SHERER, DM ;
GINNS, EL .
PEDIATRIC RESEARCH, 1992, 32 (04) :494-498
[8]   CLINICAL HETEROGENEITY AMONG PATIENTS WITH GAUCHERS-DISEASE [J].
SIDRANSKY, E ;
GINNS, EI .
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 1993, 269 (09) :1154-1157
[9]  
SIDRANSKY E, IN PRESS BAILLIERE C
[10]  
SIDRANSKY E, IN PRESS ADV PEDIAT