ATTENUATED ADENYLOSUCCINATE LYASE DEFICIENCY: A REPORT OF ONE CASE AND A REVIEW OF THE LITERATURE

被引：0
|
作者：
Jurecka, A. [1 ]
Zikanova, M. [2 ]
Jurkiewicz, E. [1 ]
Tylki-Szymanska, A. [1 ]
机构：
[1] Childrens Mem Hlth Inst, Warsaw, Poland
[2] Inst Inherited Metab Dis, Prague, Czech Republic
来源：
JOURNAL OF INHERITED METABOLIC DISEASE | 2012年 / 35卷
关键词：
D O I：
暂无
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
引用
收藏
页码：S55 / S55
页数：1
相关论文
共 50 条
  • [1] Attenuated Adenylosuccinate Lyase Deficiency: A Report of One Case and a Review of the Literature
    Jurecka, Agnieszka
    Zikanova, Marie
    Jurkiewicz, Elzbieta
    Tylki-Szymanska, Anna
    NEUROPEDIATRICS, 2014, 45 (01) : 50 - 55
  • [2] Magnetic resonance imaging of the brain in adenylosuccinate lyase deficiency: a report of seven cases and a review of the literature
    Jurecka, Agnieszka
    Jurkiewicz, Elzbieta
    Tylki-Szymanska, Anna
    EUROPEAN JOURNAL OF PEDIATRICS, 2012, 171 (01) : 131 - 138
  • [3] Magnetic resonance imaging of the brain in adenylosuccinate lyase deficiency: a report of seven cases and a review of the literature
    Agnieszka Jurecka
    Elzbieta Jurkiewicz
    Anna Tylki-Szymanska
    European Journal of Pediatrics, 2012, 171 : 131 - 138
  • [4] Vagus Nerve Stimulator in a Patient with Adenylosuccinate Lyase Deficiency: a Case Report
    Albert, Dara V. F.
    Kohrman, Michael
    JOURNAL OF PEDIATRIC EPILEPSY, 2016, 5 (01) : 53 - 56
  • [5] Adenylosuccinate lyase deficiency
    Jurecka, Agnieszka
    Zikanova, Marie
    Kmoch, Stanislav
    Tylki-Szymanska, Anna
    JOURNAL OF INHERITED METABOLIC DISEASE, 2015, 38 (02) : 231 - 242
  • [6] Adenylosuccinate lyase deficiency
    Spiegel, Erin K.
    Colman, Roberta F.
    Patterson, David
    MOLECULAR GENETICS AND METABOLISM, 2006, 89 (1-2) : 19 - 31
  • [7] Adenylosuccinate lyase deficiency - First British case
    Marinaki, AM
    Champion, M
    Kurian, MA
    Simmonds, HA
    Marie, S
    Vincent, MF
    van den Berghe, G
    Duley, JA
    Fairbanks, LD
    NUCLEOSIDES NUCLEOTIDES & NUCLEIC ACIDS, 2004, 23 (8-9): : 1231 - 1233
  • [8] AUTISM AND ADENYLOSUCCINATE LYASE DEFICIENCY
    FON, EA
    MEUNIER, C
    SHEVELL, M
    LEBOYER, M
    ALARCIA, J
    ROULEAU, GA
    ANNALS OF NEUROLOGY, 1993, 34 (02) : 309 - 309
  • [9] Adenylosuccinate lyase deficiency in a Malaysian patient, with novel adenylosuccinate lyase gene mutations
    Chen, Bee Chin
    McGown, Ivan N.
    Thong, Meow Keong
    Pitt, James
    Yunus, Zabedah M.
    Khoo, Teck Beng
    Ngu, Lock Hock
    Duley, John A.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2010, 33 : S159 - S162
  • [10] First US case of adenylosuccinate lyase deficiency with severe hypotonia
    Valik, D
    Miner, PT
    Jones, JD
    PEDIATRIC NEUROLOGY, 1997, 16 (03) : 252 - 255
12345