Clinical and mutation analysis of glycogen storage disease type III

被引：0
|
作者：
Zhuang, Taifeng [1 ]
机构：
[1] Beijing Obstet & Gynecol Hosp, Beijing, Peoples R China
来源：
JOURNAL OF INHERITED METABOLIC DISEASE | 2006年 / 29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：124 / 124
页数：1
相关论文
共 50 条
  • [1] A novel mutation in the Glycogen storage disease type III gene
    Tziouvas, K.
    Triantafyllidis, G.
    Xenou, E.
    Tsaprouni, T.
    Papandreou, I
    Gerle, Z.
    SCIENTIFIC CHRONICLES, 2012, 17 (02) : 100 - 104
  • [2] A mutation analysis of the AGL gene in Korean patients with glycogen storage disease type III
    Jae Sung Ko
    Jin Soo Moon
    Jeong Kee Seo
    Hye Ran Yang
    Ju Young Chang
    Sung Sup Park
    Journal of Human Genetics, 2014, 59 : 42 - 45
  • [3] A mutation analysis of the AGL gene in Korean patients with glycogen storage disease type III
    Ko, Jae Sung
    Moon, Jin Soo
    Seo, Jeong Kee
    Yang, Hye Ran
    Chang, Ju Young
    Park, Sung Sup
    JOURNAL OF HUMAN GENETICS, 2014, 59 (01) : 42 - 45
  • [4] Mutation analysis in glycogen storage disease type Ia
    Meaney, C
    Lee, P
    Cranston, T
    Genet, S
    JOURNAL OF MEDICAL GENETICS, 2000, 37 : S73 - S73
  • [5] Structure and mutation analysis of the glycogen storage disease type Ib gene
    Marcolongo, P
    Barone, V
    Priori, G
    Pirola, B
    Giglio, S
    Biasucci, G
    Zammarchi, E
    Parenti, G
    Burchell, A
    Benedetti, A
    Sorrentino, V
    FEBS LETTERS, 1998, 436 (02) : 247 - 250
  • [6] Glycogen Storage Disease Type III with Hypoketosis
    Clemente, Maria
    Gussinyer, Miguel
    Antonio Arranz, Jose
    Riudor, Encarnacio
    Yeste, Diego
    Albisu, Marian
    Carrascosa, Antonio
    JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2010, 23 (08): : 833 - 836
  • [7] Mutation analysis in glycogen storage disease type 1 non-a
    Andreas R. Janecke
    Martin Lindner
    Martin Erdel
    Ertan Mayatepek
    Dorothea Möslinger
    Teodor Podskarbi
    Friedrich Fresser
    Silvia Stöckler-Ipsiroglu
    Georg F. Hoffmann
    Gerd Utermann
    Human Genetics, 2000, 107 : 285 - 289
  • [8] Mutation analysis in glycogen storage disease type 1 non-a
    Janecke, AR
    Lindner, M
    Erdel, M
    Mayatepek, E
    Möslinger, D
    Podskarbi, T
    Fresser, F
    Stöckler-Ipsiroglu, S
    Hoffmann, GF
    Utermann, G
    HUMAN GENETICS, 2000, 107 (03) : 285 - 289
  • [9] NEW MUTATION IN GLYCOGEN STORAGE DISEASE TYPE VI
    Aeppli, T.
    Mann, C.
    Amgwerd, S.
    Cremer, M.
    Joset, P.
    Haeberle, J.
    Steigert, M.
    SWISS MEDICAL WEEKLY, 2018, 148 : 24S - 25S
  • [10] Myopathy in glycogen storage disease type III.
    Kishnani, PS
    Kelly, A
    Bliss, S
    Wojtkiewicz, M
    Champion, L
    Case, L
    Smith, W
    Chen, YT
    AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (04) : 282 - 282
12345