Investigation of plasma free carnitine deficiency in children with suspicion of inborn errors of metabolism

被引:0
|
作者
Allegri, G. M. [1 ]
Cruz, W. M. S. [2 ]
Scalco, F. B. [1 ]
de Oliveira, M. L. C. [1 ]
机构
[1] Univ Fed Rio de Janeiro, Lab EIM LABEIM, Rio De Janeiro, Brazil
[2] UFF, Dept Nutr Diet, Rio De Janeiro, Brazil
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
584-A
引用
收藏
页码:147 / 147
页数:1
相关论文
共 50 条
  • [1] Carnitine Inborn Errors of Metabolism
    Almannai, Mohammed
    Alfadhel, Majid
    El-Hattab, Ayman W.
    [J]. MOLECULES, 2019, 24 (18):
  • [2] Carnitine supplementation for inborn errors of metabolism
    Nasser, Mona
    Javaheri, Hoda
    Fedorowicz, Zbys
    Noorani, Zaman
    [J]. COCHRANE DATABASE OF SYSTEMATIC REVIEWS, 2012, (02):
  • [3] Carnitine supplementation for inborn errors of metabolism
    Nasser, Mona
    Javaheri, Hoda
    Fedorowicz, Zbys
    Noorani, Zaman
    [J]. COCHRANE DATABASE OF SYSTEMATIC REVIEWS, 2009, (02):
  • [4] CARNITINE METABOLISM AND INBORN-ERRORS
    ENGEL, AG
    REBOUCHE, CJ
    [J]. JOURNAL OF INHERITED METABOLIC DISEASE, 1984, 7 : 38 - 43
  • [5] Carnitine insufficiency in children with inborn errors of metabolism: prevalence and treatment efficacy
    Mamedov, Ilgar
    Zolkina, Irina
    Nikolaeva, Ekaterina
    Glagovsky, Pavel
    Sukhorukov, Vladimir
    [J]. JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2015, 28 (11-12): : 1299 - 1304
  • [6] INBORN ERROR OF CARNITINE METABOLISM (CARNITINE DEFICIENCY) IN MAN
    SMYTH, DPL
    LAKE, BD
    MACDERMOT, J
    WILSON, J
    [J]. LANCET, 1975, 1 (7917): : 1198 - 1199
  • [7] Inborn errors of L-carnitine metabolism
    Böhles, H
    [J]. ANNALS OF NUTRITION AND METABOLISM, 2000, 44 (02) : 91 - 92
  • [8] Emergency management of neonates with suspicion of inborn errors of metabolism
    Mitanchez, D
    Valayannopoulos, V
    [J]. ARCHIVES DE PEDIATRIE, 2003, 10 : 40S - 42S
  • [9] Stability of Acylcarnitines and Free Carnitine in Dried Blood Samples: Implications for Retrospective Diagnosis of Inborn Errors of Metabolism and Neonatal Screening for Carnitine Transporter Deficiency
    Fingerhut, Ralph
    Ensenauer, Regina
    Roechinger, Wulf
    Arnecke, Ralf
    Olgemoeller, Bernhard
    Roscher, Adelbert A.
    [J]. ANALYTICAL CHEMISTRY, 2009, 81 (09) : 3571 - 3575
  • [10] INBORN ERRORS OF METABOLISM IN RELATION TO MENTAL DEFICIENCY
    ROSE, GA
    [J]. PROCEEDINGS OF THE ROYAL SOCIETY OF MEDICINE-LONDON, 1962, 55 (10): : 817 - 819