New insights into creatine transporter deficiency: the importance of recycling creatine in the brain

被引:23
|
作者
van de Kamp, Jiddeke M. [1 ]
Jakobs, Cornelis [2 ]
Gibson, K. Michael [3 ]
Salomons, Gajja S. [2 ]
机构
[1] Vrije Univ Amsterdam, Med Ctr, Dept Clin Genet, NL-1007 MB Amsterdam, Netherlands
[2] Vrije Univ Amsterdam, Med Ctr, Metab Unit, Dept Clin Chem, NL-1007 MB Amsterdam, Netherlands
[3] Washington State Univ, Clin Pharmacol Sect, Spokane, WA USA
关键词
D O I
10.1007/s10545-012-9537-3
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:155 / 156
页数:2
相关论文
共 50 条
  • [41] CREATINE DEFICIENCY IN THE BRAIN - A NEW, TREATABLE INBORN ERROR OF METABOLISM
    STOCKLER, S
    HOLZBACH, U
    HANEFELD, F
    MARQUARDT, I
    HELMS, G
    REQUART, M
    HANICKE, W
    FRAHM, J
    PEDIATRIC RESEARCH, 1994, 36 (03) : 409 - 413
  • [42] IMMUNOHISTOCHEMICAL LOCALISATION OF THE CREATINE TRANSPORTER IN THE RAT BRAIN
    Mak, C. S. W.
    Waldvogel, H. J.
    Dodd, J. R.
    Gilbert, R. T.
    Lowe, M. T. J.
    Birch, N. P.
    Faull, R. L. M.
    Christie, D. L.
    NEUROSCIENCE, 2009, 163 (02) : 571 - 585
  • [43] Myocardial creatine uptake is regulated by the sarcolemmal fraction of the creatine transporter, but not by the total creatine transporter pool
    Boehm, EA
    Chan, S
    Monfared, M
    Clarke, K
    Wallimann, T
    Neubauer, S
    CIRCULATION, 2002, 106 (19) : 54 - 54
  • [44] Creatine Transporter Deficiency in Two Half-Brothers
    Ardon, Orly
    di San Filippo, Cristina Amat
    Salomons, Gajja S.
    Longo, Nicola
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2010, 152A (08) : 1979 - 1983
  • [45] CAREGIVER PERSPECTIVES ON THE HUMANISTIC BURDEN OF CREATINE TRANSPORTER DEFICIENCY
    Evins, A.
    Cimms, T.
    Blair, S.
    Whyte, J.
    Paulich, M.
    Hribal, E.
    Estrada, A.
    Evans, C.
    VALUE IN HEALTH, 2021, 24 : S204 - S204
  • [46] Novel translational phenotypes and biomarkers for creatine transporter deficiency
    Mazziotti, Raffaele
    Cacciante, Francesco
    Sagona, Giulia
    Lupori, Leonardo
    Gennaro, Mariangela
    Putignano, Elena
    Alessandri, Maria Grazia
    Ferrari, Annarita
    Battini, Roberta
    Cioni, Giovanni
    Pizzorusso, Tommaso
    Baroncelli, Laura
    BRAIN COMMUNICATIONS, 2020, 2 (02)
  • [47] Cerebral creatine transporter deficiency:: An infradiagnosed neurometabolic disease
    Campistol, J.
    Arias-Dimas, A.
    Poo, P.
    Pineda, M.
    Hoffman, M.
    Vilaseca, M. A.
    Artuch, R.
    Ribes, A.
    REVISTA DE NEUROLOGIA, 2007, 44 (06) : 343 - 347
  • [48] Creatine Transporter Deficiency Presenting as Autism Spectrum Disorder
    Yildiz, Yilmaz
    Gocmen, Rahsan
    Yaramis, Ahmet
    Coskun, Turgay
    Haliloglu, Goknur
    PEDIATRICS, 2020, 146 (05)
  • [49] Creatine transporter deficiency: Novel mutations and functional studies
    Ardon, O.
    Procter, M.
    Mao, R.
    Longo, N.
    Landau, Y. E.
    Shilon-Hadass, A.
    Gabis, L. V.
    Hoffmann, C.
    Tzadok, M.
    Heimer, G.
    Sada, S.
    Ben-Zeev, B.
    Anikster, Y.
    MOLECULAR GENETICS AND METABOLISM REPORTS, 2016, 8 : 20 - 23
  • [50] Reversible brain creatine deficiency in two sisters with normal blood creatine level
    Bianchi, MC
    Tosetti, M
    Fornai, F
    Alessandri', MG
    Cipriani, F
    De Vito, G
    Canapicchi, R
    ANNALS OF NEUROLOGY, 2000, 47 (04) : 511 - 513