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
  • [41] CAN INFANTILE-ONSET POMPE DISEASE BE MISDIAGNOSED AS SPINAL MUSCULAR ATROPHY TYPE I?
    Kostalova, E.
    Chrastina, P.
    Cansky, Z.
    Stastna, S.
    Elleder, M.
    MOLECULAR GENETICS AND METABOLISM, 2009, 98 (1-2) : 76 - 76
  • [42] SEVERE AND RECURRENT INFUSION-ASSOCIATED REACTIONS IN A PATIENT WITH INFANTILE-ONSET POMPE DISEASE
    Lianou-Trapezanoglou, D.
    Garatzioti, M.
    Syrengelas, D.
    Mavridi, I.
    Michelakakis, H.
    CLINICAL THERAPEUTICS, 2010, 32 : S78 - S79
  • [43] Cardiac arrhythmias following anesthesia induction in infantile-onset Pompe disease: a case series
    Wang, Luke Y. -J.
    Ross, Allison K.
    Li, Jennifer S.
    Dearmey, Stephanie M.
    Mackey, Joanne F.
    Worden, Maryalice
    Corzo, Deyanira
    Morgan, Claire
    Kishnani, Priya S.
    PEDIATRIC ANESTHESIA, 2007, 17 (08) : 738 - 748
  • [44] Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand
    Ngiwsara, Lukana
    Wattanasirichaigoon, Duangrurdee
    Tim-Aroon, Thipwimol
    Rojnueangnit, Kitiwan
    Noojaroen, Saisuda
    Khongkraparn, Arthaporn
    Sawangareetrakul, Phannee
    Ketudat-Cairns, James R.
    Charoenwattanasatien, Ratana
    Champattanachai, Voraratt
    Kuptanon, Chulaluck
    Pangkanon, Suthipong
    Svasti, Jisnuson
    BMC MEDICAL GENETICS, 2019, 20 (01)
  • [45] Recombinant human acid α-glucosidase -: Major clinical benefits in infantile-onset Pompe disease
    Kishnani, P. S.
    Corzo, D.
    Nicolino, M.
    Byrne, B.
    Mandel, H.
    Hwu, W. L.
    Leslie, N.
    Levine, J.
    Spencer, C.
    McDonald, M.
    Li, J.
    Dumontier, J.
    Halberthal, M.
    Chien, Y. H.
    Hopkin, R.
    Vijayaraghavan, S.
    Gruskin, D.
    Bartholomew, D.
    van der Ploeg, A.
    Clancy, J. P.
    Parini, R.
    Morin, G.
    Beck, M.
    De la Gastine, G. S.
    Jokic, M.
    Thurberg, B.
    Richards, S.
    Bali, D.
    Davison, M.
    Worden, M. A.
    Chen, Y. T.
    Wraith, J. E.
    NEUROLOGY, 2007, 68 (02) : 99 - 109
  • [46] Gene expression analysis of quadriceps muscle from patients with infantile-onset Pompe disease
    Palmer, R.
    Ciociola, K.
    Finn, P.
    Zhang, M.
    Oba-Shinjo, S.
    McVie-Wylie, A.
    Richards, S.
    Maire, S. K. N.
    Mattaliano, R.
    Pomponio, R.
    CLINICAL THERAPEUTICS, 2008, 30 : S33 - S33
  • [47] Improvement in Cardiac Function With Enzyme Replacement Therapy in a Patient With Infantile-Onset Pompe Disease
    Niyazov, Dmitriy
    Lara, Diego A.
    OCHSNER JOURNAL, 2018, 18 (04): : 413 - 416
  • [48] Response of 33 UK patients with infantile-onset Pompe disease to enzyme replacement therapy
    Broomfield, A.
    Fletcher, J.
    Davison, J.
    Finnegan, N.
    Fenton, M.
    Chikermane, A.
    Beesley, C.
    Harvey, K.
    Cullen, E.
    Stewart, C.
    Santra, S.
    Vijay, S.
    Champion, M.
    Abulhoul, L.
    Grunewald, S.
    Chakrapani, A.
    Cleary, M. A.
    Jones, S. A.
    Vellodi, A.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2016, 39 (02) : 261 - 271
  • [49] Clinical signs and symptoms of Pompe disease in 120 infantile-onset and 373 late-onset patients: A report from the Pompe Registry
    Kishnani, Priya
    Byrne, Barry
    Case, Laura
    Miller, Timothy
    MOLECULAR GENETICS AND METABOLISM, 2009, 96 (02) : S28 - S28
  • [50] CLINICAL SIGNS AND SYMPTOMS OF POMPE DISEASE IN 143 INFANTILE-ONSET AND 424 LATE-ONSET PATIENTS: A REPORT FROM THE POMPE REGISTRY
    Annane, D.
    Byrne, B. J.
    Case, L. E.
    Cupler, E.
    Genge, A. L.
    Kishnani, P.
    Lindberg, C.
    Mueller-Felber, W.
    Roberts, M. E.
    van der Ploeg, A. T.
    Zhang, Y.
    Prasad, S.
    CLINICAL THERAPEUTICS, 2010, 32 : S71 - S71
12345