AN ATYPICAL FORM OF CREATINE DEFICIENCY SYNDROME

被引：0
|
作者：
Nasrallah, F. [1 ]
Hammami, M. B. [1 ]
Hadj, Taieb S. [1 ]
Khemir, S. [1 ]
Feki, M. [1 ]
Briand, G. [2 ]
Kaabachi, N. [1 ]
机构：
[1] Rabta Hosp, Biochem Lab, Tunis, Tunisia
[2] CHRU, Biochem Lab, Lille, France
来源：
JOURNAL OF INHERITED METABOLIC DISEASE | 2010年 / 33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：S99 / S99
页数：1
相关论文
共 50 条
  • [1] Mixed movement disorders revealing an atypical form of creatine deficiency syndrome
    Nasrallah, Fahmi
    Benrhouma, Hanene
    Kraoua, Ichraf
    Briand, Gilbert
    Omar, Souheil
    Ben Youssef, Ilhem Turki
    Kaabachi, Naziha
    IRANIAN JOURNAL OF NEUROLOGY, 2015, 14 (01) : 47 - 49
  • [2] Osteopenia in creatine deficiency syndrome
    McCredie, DA
    BONE, 2005, 36 : S85 - S85
  • [3] Cardiac involvement in creatine deficiency syndrome
    Del Franco, A.
    Battini, R.
    Kusmic, C.
    Forini, F. S.
    L'Abbate, S.
    Masotti, S.
    Musetti, V.
    Borrelli, C.
    Barison, A.
    Emdin, M.
    Vergaro, G.
    EUROPEAN HEART JOURNAL, 2022, 43 : 2623 - 2623
  • [4] An atypical form of pyruvate carboxylase deficiency
    Bonafe, L
    Burlina, AB
    Sansoni, S
    Grazian, L
    Zorzi, C
    Robinson, BH
    Zacchello, F
    RIVISTA ITALIANA DI PEDIATRIA-ITALIAN JOURNAL OF PEDIATRICS, 1997, 23 (06): : 1021 - 1024
  • [5] The clinical syndrome of creatine transporter deficiency
    Ton J. De Grauw
    Kim M. Cecil
    Anna W. Byars
    Gajja S. Salomons
    William S. Ball
    Cornelis Jakobs
    Molecular and Cellular Biochemistry, 2003, 244 : 45 - 48
  • [6] CREATINE DEFICIENCY SYNDROME: TUNISIAN EXPERIENCE
    Fehmi, N.
    Hatem, A.
    Ichraf, K.
    Sameh, K.
    Riadh, G.
    Najoua, K.
    Moncef, F.
    Naziha, K.
    Francoise, B. D. M.
    Gilbert, B.
    Naziha, K.
    MOLECULAR GENETICS AND METABOLISM, 2009, 98 (1-2) : 134 - 135
  • [7] The clinical syndrome of creatine transporter deficiency
    deGrauw, TJ
    Cecil, KM
    Byars, AW
    Salomons, GS
    Ball, WS
    Jakobs, C
    MOLECULAR AND CELLULAR BIOCHEMISTRY, 2003, 244 (01) : 45 - 48
  • [8] CREATINE DEFICIENCY SYNDROME: CASE REPORT
    Farshidi, S.
    Gaphari, S. R.
    Farokhi, B.
    Hooshmand, M.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2011, 34 : S125 - S125
  • [9] CARDIAC INVOLVEMENT IN CREATINE DEFICIENCY SYNDROME
    Del Franco, A.
    Battini, R.
    Kusmic, C.
    Forini, F.
    L'Abbate, S.
    Masotti, S.
    Musetti, V.
    Barison, A.
    Emdin, M.
    Vergaro, G.
    EUROPEAN HEART JOURNAL SUPPLEMENTS, 2022, 24 (SUPPL C)
  • [10] Defining the Pathogenicity of Creatine Deficiency Syndrome
    Alcaide, Patricia
    Merinero, Begona
    Ruiz-Sala, Pedro
    Richard, Eva
    Navarrete, Rosa
    Arias, Angela
    Ribes, Antonia
    Artuch, Rafael
    Campistol, Jaume
    Ugarte, Magdalena
    Rodriguez-Pombo, Pilar
    HUMAN MUTATION, 2011, 32 (03) : 282 - 291
12345