Prenatal diagnosis of lysosomal storage disorders: our experience in 120 cases

被引:0
|
作者
Mehul Mistri
Nrupesh Oza
Frenny Sheth
Jayesh Sheth
机构
[1] FRIGE’s Institute of Human Genetics,
关键词
Amniotic Fluid; Prenatal Diagnosis; Lysosomal Enzyme; Chorionic Villus; Lysosomal Storage Disorder;
D O I
10.1186/1755-8166-7-S1-P126
中图分类号
学科分类号
摘要
引用
收藏
相关论文
共 50 条
  • [1] 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
  • [2] Prenatal diagnosis of haemophilia: our experience of 44 cases
    Zarrilli, Federica
    Sanna, Veronica
    Ingino, Rosaria
    Santamaria, Rita
    Rocino, Angiola
    Coppola, Antonio
    Di Minno, Giovanni
    Castaldo, Giuseppe
    CLINICAL CHEMISTRY AND LABORATORY MEDICINE, 2013, 51 (12) : 2233 - 2238
  • [3] Prenatal diagnosis of haemoglobinopathies: our experience of 523 cases
    Grosso, Michela
    Puzone, Stella
    Storino, Maria Rosaria
    Sessa, Raffaele
    Izzo, Paola
    CLINICAL CHEMISTRY AND LABORATORY MEDICINE, 2013, 51 (12) : 2219 - 2225
  • [4] Utility of amniotic fluid chitotriosidase in the prenatal diagnosis of lysosomal storage disorders
    Kadali, Srilatha
    Madalasa, Tumuluri
    Reddy, Gummadi Maheshwar
    Naushad, Shaik Mohammad
    CLINICAL BIOCHEMISTRY, 2018, 61 : 40 - 44
  • [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] PRENATAL-DIAGNOSIS OF LYSOSOMAL STORAGE DISEASES - REVIEW OF 23 CASES
    CAREY, WF
    NELSON, PV
    POLLARD, AC
    PATHOLOGY, 1980, 12 (01) : 139 - 139
  • [7] Occurrence and screening strategy of lysosomal storage disorders in India: Our experience
    Sheth, Jayesh
    Mistri, Mehul
    Oza, Nrupesh
    Sheth, Frenny
    MOLECULAR GENETICS AND METABOLISM, 2011, 102 (02) : S41 - S41
  • [9] Prenatal diagnosis of lysosomal storage diseases
    Lake, BD
    Young, EP
    Winchester, BG
    BRAIN PATHOLOGY, 1998, 8 (01) : 133 - 149
  • [10] PITFALLS IN THE PRENATAL DIAGNOSIS OF LYSOSOMAL DISORDERS
    WENGER, DA
    CLINICAL CHEMISTRY, 1979, 25 (06) : 1047 - 1047