Guideline for diagnosis, follow-up and treatment of mucopolysaccharidoses type II or Hunter disease

被引：0
作者：
Guelbert, Norberto
Amartino, Hernan
Arberas, Claudia
Azar, Nidia
Bay, Luisa
Fainboim, Alejandro
Fernandez, Maria C.
Giner, Alicia
Ilari, Rita
Marchione, Delfina
Masllorens, Francisca
Maria Oller-Ramirez, Ana
Perochena, Jorge
Riccheri, Cecilia
Richard, Lucia
Rozenfeld, Paula
Serafin, Eva
Szlago, Marina
Valdez, Rita
机构：
来源：
ARCHIVOS ARGENTINOS DE PEDIATRIA | 2011年 / 109卷 / 02期
关键词：
BONE-MARROW-TRANSPLANTATION; ENZYME REPLACEMENT THERAPY; CHILDREN; ANESTHESIA; AIRWAY;
D O I：
暂无
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
引用
收藏
页码：175 / 181
页数：7
相关论文
共 30 条
[1]  
[Anonymous], 2007, EL ID PROSP
[2]   Twelve different enzyme assays on dried-blood filter paper samples for detection of patients with selected inherited lysosomal storage diseases [J].
Civallero, Gabriel ;
Michelin, Kristiane ;
de Mari, Jurema ;
Viapiana, Marli ;
Burin, Maira ;
Coelho, Janice C. ;
Giugliani, Roberto .
CLINICA CHIMICA ACTA, 2006, 372 (1-2) :98-102
[3]  
DEJONG JGN, 1989, CLIN CHEM, V35, P1472
[4]  
DEMBURE PP, 1991, TECHNIQUES DIAGNOSTI, P77
[5]   Multiple sulfatase deficiency is caused by mutations in the gene encoding the human Cα-formylglycine generating enzyme [J].
Dierks, T ;
Schmidt, B ;
Borissenko, LV ;
Peng, JH ;
Preusser, A ;
Mariappan, M ;
von Figura, K .
CELL, 2003, 113 (04) :435-444
[6]   Mucopolysaccharidosis type II: an update on mutation spectrum [J].
Froissart, Roseline ;
Da Silva, Isabel Moreira ;
Maire, Irene .
ACTA PAEDIATRICA, 2007, 96 :71-77
[7]   Bone Marrow Transplantation in Children with Hunter Syndrome: Outcome after 7 to 17 Years [J].
Guffon, Nathalie ;
Bertrand, Yves ;
Forest, Isabelle ;
Fouilhoux, Alain ;
Froissart, Roseline .
JOURNAL OF PEDIATRICS, 2009, 154 (05) :733-737
[8]  
HENDERSON MA, 1995, EUR J ANAESTH, V12, P613
[9]   SEQUENTIAL THIN-LAYER CHROMATOGRAPHY OF URINARY ACIDIC GLYCOSAMINOGLYCANS [J].
HUMBEL, R ;
CHAMOLES, NA .
CLINICA CHIMICA ACTA, 1972, 40 (01) :290-&
[10]   Prenatal diagnosis of the Hunter syndrome and the introduction of a new fluorimetric enzyme assay [J].
Keulemans, JLM ;
Sinigerska, I ;
Garritsen, VH ;
Huijmans, JGM ;
Voznyi, YV ;
van Diggelen, OP ;
Kleijer, WJ .
PRENATAL DIAGNOSIS, 2002, 22 (11) :1016-1021
123