An infant with type II Gaucher disease treated with enzyme replacement therapy

被引:2
|
作者
Ebihara, Go [1 ]
Matsushita, Yuki [1 ]
Kirino, Makiko [1 ]
Hikino, Shunji [1 ]
Sato, Kazuo [1 ]
机构
[1] Natl Hosp Org, Kyushu Med Ctr, Clin Res Inst, Dept Pediat, Fukuoka, Japan
关键词
enzyme replacement therapy; L483R; quality of life; type II Gaucher disease; MUTATION;
D O I
10.1111/ped.14873
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
引用
收藏
页数:2
相关论文
共 50 条
  • [1] Enzyme replacement therapy in type 2 Gaucher disease
    Tournay, A
    Parker, C
    Schiffman, R
    Brady, R
    Barton, N
    NEUROLOGY, 1996, 46 (02) : 1106 - 1106
  • [2] Enzyme replacement therapy in type III Gaucher disease
    Tylki-Szymanska, A
    Czartoryska, B
    JOURNAL OF INHERITED METABOLIC DISEASE, 1999, 22 (02) : 203 - 204
  • [3] ENZYME REPLACEMENT THERAPY IN GAUCHER DISEASE TYPE-1
    AGGIO, MC
    FERNANDEZ, V
    MARCILESE, M
    MEDICINA-BUENOS AIRES, 1994, 54 (02) : 140 - 144
  • [4] ENZYME REPLACEMENT THERAPY IN TYPE-I GAUCHER DISEASE
    KAY, AC
    BEUTLER, E
    CLINICAL RESEARCH, 1991, 39 (02): : A326 - A326
  • [5] Enzyme replacement therapy in a patient with type III Gaucher disease
    Carbajal-Rodriguez, Luis
    Gomez-Gonzalez, Ma. Fernanda
    Rodriguez-Herrera, Raymundo
    Zarco-Roman, Jorge
    Mora-Tiscareno, Ma. Antonieta
    ACTA PEDIATRICA DE MEXICO, 2012, 33 (01): : 9 - 19
  • [6] Enzyme replacement therapy for Gaucher disease
    Charrow, Joel
    EXPERT OPINION ON BIOLOGICAL THERAPY, 2009, 9 (01) : 121 - 131
  • [7] ENZYME REPLACEMENT THERAPY FOR GAUCHER DISEASE
    BEUTLER, E
    KAY, A
    SAVEN, A
    GARVER, P
    THURSTON, D
    DAWSON, A
    ROSENBLOOM, B
    BLOOD, 1991, 78 (05) : 1183 - 1189
  • [8] Abnormal pathology findings in a patient with Gaucher disease type 3 treated with enzyme replacement therapy
    Burrow, Thomas
    Witte, David
    Bailey, Laurie
    Prada, Carlos
    Sun, Ying
    Cohen, Mitchell
    Wu, Steve
    Grabowski, Gregory
    MOLECULAR GENETICS AND METABOLISM, 2013, 108 (02) : S27 - S27
  • [9] Splenic nodules in paediatric Gaucher disease treated by enzyme replacement therapy
    Chippington, Samantha
    McHugh, Kieran
    Vellodi, Ashok
    PEDIATRIC RADIOLOGY, 2008, 38 (06) : 657 - 660
  • [10] Splenic nodules in paediatric Gaucher disease treated by enzyme replacement therapy
    Samantha Chippington
    Kieran McHugh
    Ashok Vellodi
    Pediatric Radiology, 2008, 38 : 657 - 660