Type 1 Gaucher disease with fatal outcome in a 17 year old girl from Kazakhstan

被引:0
作者
Cainelli, Francesca [1 ,3 ]
Nurgaliev, Dair [3 ,4 ]
Nurgaliyeva, Kadischa [3 ,5 ]
Iyanoya-Razumova, Tatyana [6 ]
Bulanin, Denis [2 ]
Vento, Sandro [1 ,3 ]
机构
[1] Nazarbayev Univ, Sch Med, Dept Med, Astana, Kazakhstan
[2] Nazarbayev Univ, Sch Med, Dept Biochem Sci, Astana, Kazakhstan
[3] Nazarbayev Univ, Med Ctr, Astana, Kazakhstan
[4] Nazarbayev Univ, Med Ctr, Natl Res Ctr Maternal & Child Hlth, Dept Oncol 1, Astana, Kazakhstan
[5] Nazarbayev Univ, Med Ctr, Natl Res Ctr Maternal & Child Hlth, Clin Lab Cytomorphol, Astana, Kazakhstan
[6] Natl Res Cardiac Surg Ctr, Pediat Rehabil Unit, Astana, Kazakhstan
来源
ISRAEL MEDICAL ASSOCIATION JOURNAL | 2017年 / 19卷 / 05期
关键词
Gaucher disease; splenectomy; pulmonary hypertension; rare diseases; Kazakhstan; SPLENECTOMY;
D O I
暂无
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:329 / 330
页数:2
相关论文
共 5 条
[1]   LONG-TERM FOLLOW-UP OF PARTIAL SPLENECTOMY IN GAUCHERS-DISEASE [J].
COHEN, IJ ;
KATZ, K ;
FREUD, E ;
ZER, M ;
ZAIZOV, R .
AMERICAN JOURNAL OF SURGERY, 1992, 164 (04) :345-347
[2]   Gaucher Disease: Clinical, Biological and Therapeutic Aspects [J].
Dandana, Azza ;
Ben Khelifa, Souhaira ;
Chahed, Hinda ;
Miled, Abdelhedi ;
Ferchichi, Salima .
PATHOBIOLOGY, 2016, 83 (01) :13-23
[3]   A 27-YEAR EXPERIENCE WITH SPLENECTOMY FOR GAUCHERS-DISEASE [J].
FLESHNER, PR ;
AUFSES, AH ;
GRABOWSKI, GA ;
ELIAS, R .
AMERICAN JOURNAL OF SURGERY, 1991, 161 (01) :69-75
[4]   Pulmonary hypertension in type I Gaucher's disease: genetic and epigenetic determinants of phenotype and response to therapy [J].
Mistry, PK ;
Sirrs, S ;
Chan, A ;
Pritzker, MR ;
Thomas, PD ;
Grace, ME ;
Meeker, DP ;
Goldman, ME .
MOLECULAR GENETICS AND METABOLISM, 2002, 77 (1-2) :91-98
[5]  
Zimran A, 2014, ISR MED ASSOC J, V16, P723