Novel X-linked mental retardation syndrome: Creatine transporter deficiency

被引：0
|
作者：
Salomons, GS
vanDooren, SJM
Darmin, P
Verhoeven, NM
Marsden, D
Mancini, GGM
Schwartz, CE
Cecil, KM
deGrauw, TJ
Jakobs, C
机构：
来源：
NEUROLOGY | 2004年 / 62卷 / 07期
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：A22 / A22
页数：1
相关论文
共 50 条
  • [1] X-Linked creatine transporter deficiency in two patients with severe mental retardation and autism
    Póo-Argüelles, P
    Arias, A
    Vilaseca, MA
    Ribes, A
    Artuch, R
    Sans-Fito, A
    Moreno, A
    Jakobs, C
    Salomons, G
    JOURNAL OF INHERITED METABOLIC DISEASE, 2006, 29 (01) : 220 - 223
  • [2] X-linked creatine transporter deficiency
    Schiaffino, MC
    Bellini, C
    Costabello, L
    Caruso, U
    Jakobs, C
    Salomons, GS
    Bonioli, E
    NEUROGENETICS, 2005, 6 (03) : 165 - 168
  • [3] The screening of creatine transporter defect among Estonian families with X-linked mental retardation
    Oeunap, K.
    Puusepp, H.
    Kall, K.
    Talvik, I
    Mannamaa, M.
    Jakobs, C.
    Salomons, G. S.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2008, 31 : 70 - 70
  • [4] X-linked creatine deficiency syndrome:: A novel mutation in creatine transporter gene SLC6A8
    Bizzi, A
    Bugiani, M
    Salomons, GS
    Hunneman, DH
    Moroni, I
    Estienne, M
    Danesi, U
    Jakobs, C
    Uziel, G
    ANNALS OF NEUROLOGY, 2002, 52 (02) : 227 - 231
  • [5] X-linked West Syndrome and mental retardation
    Fejerman, N
    Cersosimo, R
    Caraballo, R
    Buompadre, C
    EPILEPSIA, 2003, 44 : 73 - 73
  • [6] X-linked West Syndrome and mental retardation
    Oscar Cersosimo, Ricardo
    Horacio Caraballo, Roberto
    Celeste Buompadre, Maria
    Fejerman, Natalio
    JOURNAL OF PEDIATRIC NEUROLOGY, 2005, 3 (02) : 89 - 93
  • [7] RENPENNINGS SYNDROME - X-LINKED MENTAL RETARDATION
    TURNER, G
    TURNER, B
    COLLINS, E
    LANCET, 1970, 2 (7668): : 365 - &
  • [8] X-linked creatine transporter deficiency: clinical aspects and pathophysiology
    van de Kamp, Jiddeke M.
    Mancini, Grazia M.
    Salomons, Gajja S.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2014, 37 (05) : 715 - 733
  • [9] X-Linked Creatine Transporter Deficiency Presenting as a Mitochondrial Disorder
    Hathaway, Samantha C.
    Friez, Michael
    Limbo, Kimberly
    Parker, Colette
    Salomons, Gajja S.
    Vockley, Jerry
    Wood, Tim
    Abdul-Rahman, Omar A.
    JOURNAL OF CHILD NEUROLOGY, 2010, 25 (08) : 1009 - 1012
  • [10] A NEW X-LINKED MENTAL-RETARDATION SYNDROME
    ATKIN, JF
    FLAITZ, K
    PATIL, S
    SMITH, W
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1985, 21 (04): : 697 - 705
12345