Infantile-Onset Pompe Disease

被引：0
|
作者：
Ashrafi, Mahmoud Reza [1 ,2 ]
Tavasoli, Alireza
机构：
[1] Univ Tehran Med Sci, Growth & Dev Res Ctr, Childrens Med Ctr, Pediat Neurol, Tehran, Iran
[2] Univ Tehran Med Sci, Dept Pediat Neurol, Childrens Med Ctr, Pediat Neurol, Tehran, Iran
来源：
IRANIAN JOURNAL OF CHILD NEUROLOGY | 2012年 / 6卷 / 04期
关键词：
Pompe disease; Infantile pompe disease; Cardiomyopathy; Dried Blood Spot test;
D O I：
暂无
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
引用
收藏
页码：7 / 9
页数：3
相关论文
共 50 条
  • [21] Transcriptional response to GAA deficiency (Pompe disease) in infantile-onset patients
    Palermo, A. T.
    Palmer, R. E.
    So, K. S.
    Oba-Shinjo, S. M.
    Zhang, M.
    Richards, B.
    Madhiwalla, S. T.
    Finn, P. F.
    Hasegawa, A.
    Ciociola, K. M.
    Pescatori, M.
    McVie-Wylie, A. J.
    Mattaliano, R. J.
    Madden, S. L.
    Marie, S. K. N.
    Klinger, K. W.
    Pomponio, R. J.
    MOLECULAR GENETICS AND METABOLISM, 2012, 106 (03) : 287 - 300
  • [22] In utero enzyme replacement therapy in a fetus with infantile-onset Pompe disease
    Cohen, Jennifer L.
    Chakraborty, Pranesh
    Fung-Kee-Fung, Karen
    Schwa, Marisa E.
    Bali, Deeksha
    Young, Sarah
    Gelb, Michael H.
    Khaledi, Hamid
    McIntosh, Nathan
    DiBattista, Alicia
    Kelly, Deidre
    Smallshaw, Stacey
    Lianoglou, Billie
    Harmatz, Paul
    Kishnani, Priya S.
    MacKenzie, Tippi C.
    MOLECULAR GENETICS AND METABOLISM, 2022, 135 (02) : S33 - S33
  • [23] Adenotonsillectomy should be avoided whenever possible in infantile-onset Pompe disease
    Jones, Harrison N.
    Fernandes, Samuela
    Hannah, William B.
    Kansagra, Sujay
    Raynor, Eileen M.
    Kishnani, Priya S.
    MOLECULAR GENETICS AND METABOLISM REPORTS, 2020, 23
  • [24] In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe's Disease
    Cohen, Jennifer L.
    Chakraborty, Pranesh
    Fung-Kee-Fung, Karen
    Schwab, Marisa E.
    Bali, Deeksha
    Young, Sarah P.
    Gelb, Michael H.
    Khaledi, Hamid
    DiBattista, Alicia
    Smallshaw, Stacey
    Moretti, Felipe
    Wong, Derek
    Lacroix, Catherine
    El Demellawy, Dina
    Strickland, Kyle C.
    Lougheed, Jane
    Moon-Grady, Anita
    Lianoglou, Billie R.
    Harmatz, Paul
    Kishnani, Priya S.
    MacKenzie, Tippi C.
    NEW ENGLAND JOURNAL OF MEDICINE, 2022, 387 (23): : 2150 - 2158
  • [25] Early diagnosis and treatment of infantile-onset Pompe disease via newborn screen
    Cohen, Jennifer L.
    Desai, Ankit
    Li, Cindy
    Huggins, Erin
    Cooper, Gabrielle
    Bhambhani, Vikas
    Dempsey, Katherine
    Ficicioglu, Can
    Gupta, Punita
    Austin, Stephanie
    Kishnani, Priya S.
    MOLECULAR GENETICS AND METABOLISM, 2021, 132 (02) : S26 - S27
  • [26] A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease
    Kishnani, Priya S.
    Hwu, Wuh-Liang
    Mandel, Hanna
    Nicolino, Marc
    Yong, Florence
    Corzo, Deyanira
    JOURNAL OF PEDIATRICS, 2006, 148 (05): : 671 - 676
  • [27] The phenotype, genotype, and outcome of infantile-onset Pompe disease in 18 Saudi patients
    Al-Hassnan, Zuhair N.
    Khalifa, Ola A.
    Bubshait, Dalal K.
    Tulbah, Sahar
    Alkorashy, Maarab
    Alzaidan, Hamad
    Alowain, Mohammed
    Rahbeeni, Zuhair
    Al-Sayed, Moeen
    MOLECULAR GENETICS AND METABOLISM REPORTS, 2018, 15 : 50 - 54
  • [28] Hypertrophic Cardiomyopathy in Infantile-Onset Pompe Disease Treated with Enzyme Replacement Therapy
    Hussain, Sabena F.
    Geddes, Gabrielle
    Schamberger, Marcus
    Parent, John
    PEDIATRICS, 2021, 147 (03)
  • [29] Giant Heart of Classical Infantile-Onset Pompe Disease With Mirror Image Dextrocardia
    Tripathi, Sushil P.
    Phadke, Milind S.
    Kerkar, Prafulla G.
    CIRCULATION-CARDIOVASCULAR IMAGING, 2015, 8 (09)
  • [30] Brain Development in Infantile-Onset Pompe Disease Treated by Enzyme Replacement Therapy
    Yin-Hsiu Chien
    Ni-Chung Lee
    Shinn-Forng Peng
    Wuh-Liang Hwu
    Pediatric Research, 2006, 60 : 349 - 352
12345