Neonatal cholestasis in an intermediate phenotype of type 2 Gaucher disease

被引:3
作者
Ben Turkia, H. [1 ]
Tebib, N. [1 ]
Kasdallah, N. [1 ]
Abdelmoula, M. S. [1 ]
Azzouz, H. [1 ]
Ben Chehida, A. [1 ]
Caillaud, C. [2 ]
Ben Dridi, M. F. [1 ]
机构
[1] Hop Rabta, Serv Pediat, Tunis 1007, Tunisia
[2] Hop Cochin Port Royal, Lab Genet & Biochim Metab, F-75013 Paris, France
来源
ARCHIVES DE PEDIATRIE | 2009年 / 16卷 / 03期
关键词
ABNORMALITIES; ICHTHYOSIS; CONTINUUM;
D O I
10.1016/j.arcped.2008.11.019
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
[No abstract available]
引用
收藏
页码:255 / 257
页数:3
相关论文
共 20 条
[1]  
Barbier C, 2002, ACTA PAEDIATR, V91, P1399
[2]  
Beutler E., 2001, METABOLIC MOL BASES, V3, P3635
[3]   Variant Gaucher disease characterized by dysmorphic features, absence of cardiovascular involvement, laryngospasm, and compound heterozygosity for a novel mutation (D409H/C16S) [J].
Bodamer, OAF ;
Church, HJ ;
Cooper, A ;
Wraith, JE ;
Scott, CR ;
Scaglia, F .
AMERICAN JOURNAL OF MEDICAL GENETICS, 2002, 109 (04) :328-331
[4]   Perinatal lethal phenotype with generalized ichthyosis in a type 2 Gaucher disease patient with the [L444P;E326K]/P182L genotype:: Effect of the E326K change in neonatal and classic forms of the disease [J].
Chabás, A ;
Gort, L ;
Díaz-Font, A ;
Montfort, M ;
Santamaría, R ;
Cidrás, M ;
Grinberg, D ;
Vilageliu, L .
BLOOD CELLS MOLECULES AND DISEASES, 2005, 35 (02) :253-258
[5]  
CHOULOT JJ, 1981, ARCH FR PEDIATR, V38, P267
[6]   Perinatal lethal Gaucher disease: A distinct phenotype along the neuronopathic continuum [J].
Eblan, MJ ;
Goker-Alpan, O ;
Sidransky, E .
FETAL AND PEDIATRIC PATHOLOGY, 2005, 24 (4-5) :205-222
[7]   CONGENITAL ICHTHYOSIS PRECEDING NEUROLOGIC SYMPTOMS IN 2 SIBS WITH TYPE-2 GAUCHER-DISEASE [J].
FUJIMOTO, A ;
TAYEBI, N ;
SIDRANSKY, E .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1995, 59 (03) :356-358
[8]  
Germain DP, 2007, REV MED INTERNE, V28, pS193
[9]   Gaucher's disease: a paradigm for interventional genetics [J].
Germain, DP .
CLINICAL GENETICS, 2004, 65 (02) :77-86
[10]   Phenotypic continuum in neuronopathic Gaucher disease: An intermediate phenotype between type 2 and type 3 [J].
Goker-Alpan, O ;
Schiffmann, R ;
Park, JK ;
Stubblefield, BK ;
Tayebi, N ;
Sidransky, E .
JOURNAL OF PEDIATRICS, 2003, 143 (02) :273-276