Glycogen storage disease type IIIa presenting with proximal muscle weakness and asymptomatic ketotic hypoglycaemia

被引:0
|
作者
Schneider, A. M. [1 ]
Topakian, R. [1 ]
Ciovica, I. [1 ]
Weiss, S. [1 ]
Aichner, F. T. [1 ]
机构
[1] Acad Teaching Hosp Wagner Jauregg, Linz, Austria
关键词
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:535 / 535
页数:1
相关论文
共 50 条
  • [1] Bulbar muscle weakness and fatty lingual infiltration in glycogen storage disorder type IIIa
    Horvath, Jeffrey J.
    Austin, Stephanie L.
    Jones, Harrison N.
    Drake, Elizabeth J.
    Case, Laura E.
    Soher, Brian J.
    Bashir, Mustafa R.
    Kishnani, Priya S.
    MOLECULAR GENETICS AND METABOLISM, 2012, 107 (03) : 496 - 500
  • [2] Muscle glycogen storage disease 0 presenting recurrent syncope with weakness and myalgia
    Sukigara, Sayuri
    Liang, Wen-Chen
    Komaki, Hirofumi
    Fukuda, Tokiko
    Miyamoto, Takeshi
    Saito, Takashi
    Saito, Yoshiaki
    Nakagawa, Eiji
    Sugai, Kenji
    Hayashi, Yukiko K.
    Sugie, Hideo
    Sasaki, Masayuki
    Nishino, Ichizo
    NEUROMUSCULAR DISORDERS, 2012, 22 (02) : 162 - 165
  • [3] Asymptomatic critical hypoglycaemia: a dangerous presentation of glycogen storage disease type Ib in infancy
    Bock, Dirk E.
    Rupar, Charles A.
    Prasad, Chitra
    ACTA PAEDIATRICA, 2011, 100 (09) : E130 - E132
  • [4] Glycogen storage disease type IX and growth hormone deficiency presenting as severe ketotic hypoglycemia
    Hodax, Juanita K.
    Uysal, Serife
    Quintos, Jose Bernardo
    Phornphutkul, Chanika
    JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2017, 30 (02): : 247 - 251
  • [5] Outcome of type IIIa glycogen storage disease in Japan
    Owada, M.
    Usui, H.
    Nakabayashi, H.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2006, 29 : 61 - 61
  • [6] CHARACTERIZATION OF LIVER AND MUSCLE PHENOTYPES IN A CANINE MODEL OF GLYCOGEN STORAGE DISEASE TYPE IIIA
    Sun, B.
    Yi, H.
    Thurberg, B.
    Austin, S.
    Fyfe, J.
    Koeberl, D.
    Kishnani, P.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2012, 35 : S80 - S80
  • [7] Glycogen storage disease type 1a presenting as gouty arthritis in a young female without hypoglycaemia
    Ete, Tony
    Roy, Akash
    Bhattacharya, Prasanta K.
    Mishra, Animesh
    Khonglah, Yookarin
    Mishra, Jaya
    Dorjee, Rinchin
    Lyngdoh, Monaliza
    EGYPTIAN RHEUMATOLOGIST, 2016, 38 (03): : 263 - 267
  • [8] A case of glycogen storage disease type Ib presenting with prolonged neonatal hypoglycaemia and minimal metabolic abnormalities
    Matsumoto, Hiroshi
    Kajiwara, Shinsuke
    Ogura, Yumi
    Asano, Takako
    Horikawa, Reiko
    Nonoyama, Shigeaki
    ACTA PAEDIATRICA, 2010, 99 (02) : 163 - 164
  • [9] Long term longitudinal study of muscle function in patients with glycogen storage disease type IIIa
    Decostre, Valerie
    Laforet, Pascal
    De Antonio, Marie
    Kachetel, Kahina
    Canal, Aurelie
    Ollivier, Gwenn
    Nadaj-Pakleza, Aleksandra
    Petit, Francois M.
    Wahbi, Karim
    Fayssoil, Abdallah
    Eymard, Bruno
    Behin, Anthony
    Labrune, Philippe
    Hogrel, Jean-Yves
    MOLECULAR GENETICS AND METABOLISM, 2017, 122 (03) : 108 - 116
  • [10] Muscle glycogen storage disease type 0b presenting recurrent post-exercise loss of consciousness with weakness and myalgia
    Sukigara, S.
    Liang, W.
    Komaki, H.
    Fukuda, T.
    Miyamoto, K.
    Sakuma, H.
    Saito, Y.
    Nakagawa, E.
    Sugai, K.
    Sugie, H.
    Sasaki, M.
    Nishino, I.
    NEUROMUSCULAR DISORDERS, 2010, 20 (9-10) : 671 - 672