Cerebral folate deficiency: an underestimated neurometabolic condition

被引：0
|
作者：
Blau, N
Opladen, T
Ramaekers, VT
机构：
[1] Univ Zurich, Childrens Hosp, Div Clin Chem & Biochem, Zurich, Switzerland
[2] Univ Hosp Aachen, Div Pediat Neurol, Aachen, Germany
来源：
MOLECULAR GENETICS AND METABOLISM | 2004年 / 81卷 / 03期
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：167 / 167
页数：1
相关论文
共 50 条
  • [31] Progressive Encephalopathy in a Child With Cerebral Folate Deficiency Syndrome
    Bonkowsky, Joshua L.
    Ramaekers, Vincent T.
    Quadros, Edward V.
    Lloyd, Michael
    [J]. JOURNAL OF CHILD NEUROLOGY, 2008, 23 (12) : 1460 - 1463
  • [32] INFANTILE-ONSET CEREBRAL FOLATE DEFICIENCY SYNDROME
    Ramaekers, V
    Opladen, T.
    Blau, N.
    [J]. JOURNAL OF INHERITED METABOLIC DISEASE, 2005, 28 : 232 - 232
  • [33] Clinical recognition and aspects of the cerebral folate deficiency syndromes
    Ramaekers, Vincent
    Sequeira, Jeffrey M.
    Quadros, Edward V.
    [J]. CLINICAL CHEMISTRY AND LABORATORY MEDICINE, 2013, 51 (03) : 497 - 511
  • [34] Clinical, etiological and therapeutic aspects of cerebral folate deficiency
    Molero-Luis, Marta
    Serrano, Mercedes
    O'Callaghan, Maria M.
    Sierra, Cristina
    Perez-Duenas, Belen
    Garcia-Cazorla, Angels
    Artuch, Rafael
    [J]. EXPERT REVIEW OF NEUROTHERAPEUTICS, 2015, 15 (07) : 793 - 802
  • [35] Cerebral folate deficiency: Analytical tests and differential diagnosis
    Pope, Simon
    Artuch, Rafael
    Heales, Simon
    Rahman, Shamima
    [J]. JOURNAL OF INHERITED METABOLIC DISEASE, 2019, 42 (04) : 655 - 672
  • [36] THE EXTENDED CLINICAL SPECTRUM OF CEREBRAL FOLATE TRANSPORT DEFICIENCY
    Steinfeld, R.
    Grapp, M.
    Kraetzner, R.
    Gaertner, J.
    [J]. JOURNAL OF INHERITED METABOLIC DISEASE, 2011, 34 : S119 - S119
  • [37] Association of cerebral folate deficiency and hereditary spastic paraplegia
    Duarte, S.
    Cruz Martins, R.
    Rodrigues, M.
    Lourenco, E.
    Moreira, I.
    Alonso, I.
    Magalhaes, M.
    [J]. NEUROLOGIA, 2021, 36 (07): : 550 - 552
  • [38] Cerebral folate deficiency: A report of two affected siblings
    Almahmoud, Rabah
    Mekki, Mohammed
    El-Hattab, Ayman W.
    [J]. MOLECULAR GENETICS AND METABOLISM REPORTS, 2023, 35
  • [39] KEARNS-SAYRE SYNDROME AND CEREBRAL FOLATE DEFICIENCY
    Artuch, R.
    Garcia-Silva, M. T.
    O'Callaghan, M.
    Ormazabal, A.
    Blazquez, A.
    Martin, M. A.
    Lopez-Gallardo, E.
    Montoya, J.
    Pineda, M.
    [J]. JOURNAL OF INHERITED METABOLIC DISEASE, 2010, 33 : S163 - S163
  • [40] NEURO-PSYCHIATRIC MAINFESTATIONS OF CEREBRAL FOLATE DEFICIENCY ASSOCIATED WITH FOLATE RECEPTOR AUTOIMMUNITY
    Ramaekers, V
    Sequeira, J. M.
    Quadros, E., V
    [J]. JOURNAL OF INHERITED METABOLIC DISEASE, 2011, 34 : S124 - S124
12345