Molecular diagnosis of Lysosomal Storage Disorders by using resequencing array technology

被引：0
|
作者：
Hendriksz, Chris [1 ]
Bruce, Chris [1 ]
Gissen, Paul [1 ]
机构：
[1] Univ Birmingham, Sch Clin & Expt Med, Birmingham Childrens Hosp NHS Fdn Trust, Birmingham, W Midlands, England
来源：
MOLECULAR GENETICS AND METABOLISM | 2010年 / 99卷 / 02期
关键词：
D O I：
10.1016/j.ymgme.2009.10.076
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
59
引用
收藏
页码：S20 / S20
页数：1
相关论文
共 50 条
  • [1] Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders
    Fernandez-Marmiesse, Ana
    Morey, Marcos
    Pineda, Merce
    Eiris, Jesus
    Luz Couce, Maria
    Castro-Gago, Manuel
    Maria Fraga, Jose
    Lacerda, Lucia
    Gouveia, Sofia
    Socorro Perez-Poyato, Maria
    Armstrong, Judith
    Castineiras, Daisy
    Cocho, Jose A.
    ORPHANET JOURNAL OF RARE DISEASES, 2014, 9
  • [2] Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders
    Ana Fernández-Marmiesse
    Marcos Morey
    Merce Pineda
    Jesús Eiris
    Maria Luz Couce
    Manuel Castro-Gago
    Jose Maria Fraga
    Lucia Lacerda
    Sofia Gouveia
    Maria Socorro Pérez-Poyato
    Judith Armstrong
    Daisy Castiñeiras
    Jose A Cocho
    Orphanet Journal of Rare Diseases, 9
  • [3] DIAGNOSIS OF LYSOSOMAL STORAGE DISORDERS
    KERR, C
    MEDICAL JOURNAL OF AUSTRALIA, 1984, 140 (04) : 188 - 189
  • [4] Current molecular genetics strategies for the diagnosis of lysosomal storage disorders
    Giugliani, Roberto
    Brusius-Facchin, Ana-Carolina
    Pasqualim, Gabriela
    Leistner-Segal, Sandra
    Riegel, Mariluce
    Matte, Ursula
    EXPERT REVIEW OF MOLECULAR DIAGNOSTICS, 2016, 16 (01) : 113 - 123
  • [5] Early prenatal diagnosis of lysosomal storage disorders by enzymatic and molecular analysis
    Li, Duan
    Lin, Yunting
    Huang, Yonglan
    Zhang, Wen
    Jiang, Minyan
    Li, Xiuzhen
    Zhao, Xiaoyuan
    Sheng, Huiying
    Yin, Xi
    Su, Xueying
    Shao, Yongxian
    Liu, Zongcai
    Li, Dongzhi
    Li, Fatao
    Liao, Can
    Liu, Li
    PRENATAL DIAGNOSIS, 2018, 38 (10) : 779 - 787
  • [6] Molecular and biochemical diagnosis of lysosomal free sialic acid storage disorders.
    Fitzpatrick, DL
    Kleta, R
    Martin, RA
    Aughton, DJ
    Rivkin, MJ
    Orvisky, E
    Huizing, M
    Krasnewich, D
    Gahl, WA
    AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 71 (04) : 412 - 412
  • [7] Systematic approach to the diagnosis of lysosomal storage disorders
    Weibel, TD
    Brady, RO
    MENTAL RETARDATION AND DEVELOPMENTAL DISABILITIES RESEARCH REVIEWS, 2001, 7 (03): : 190 - 199
  • [8] Inherited metabolic disorders: prenatal diagnosis of lysosomal storage disorders
    Verma, Jyotsna
    Thomas, Divya C.
    Sharma, Sandeepika
    Jhingan, Geetu
    Saxena, Renu
    Kohli, Sudha
    Puri, Ratna D.
    Bijarnia, Sunita
    Verma, Ishwar C.
    PRENATAL DIAGNOSIS, 2015, 35 (11) : 1137 - 1147
  • [9] Molecular study of lysosomal storage disorders in India
    Jayesh Sheth
    Molecular Cytogenetics, 7 (Suppl 1)
  • [10] Molecular basis of lysosomal storage disorders in India
    Shweta P Kondurkar
    Parag Tamhankar
    Pratima Kondurkar
    Ashwin Dalal
    Jayesh Sheth
    Molecular Cytogenetics, 7 (Suppl 1)
12345