FATTY ACID OXIDATION DISORDERS: A NEW PICTURE AFTER EXPANDED NEWBORN SCREENING

被引:0
|
作者
Rocha, H. [1 ]
Marcao, A. [1 ]
Sousa, C. [1 ]
Fonseca, H. [1 ]
Vilarinho, L. [1 ]
机构
[1] CGMJM INSA, NBS Unit, Oporto, Portugal
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:S61 / S61
页数:1
相关论文
共 50 条
  • [31] LCHAD DEFICIENCY - THE MOST FREQUENT FATTY ACID OXIDATION DISORDER IN NEWBORN SCREENING IN THE CZECH REPUBLIC
    Chrastina, P.
    Bartl, J.
    Hornik, P.
    Hladikova, J.
    Koubikova, H.
    Paulova, M.
    Kostalova, E.
    Stastna, S.
    MOLECULAR GENETICS AND METABOLISM, 2009, 98 (1-2) : 106 - 107
  • [32] FATTY-ACID OXIDATION DISORDERS - A NEW CLASS OF METABOLIC DISEASES
    HALE, DE
    BENNETT, MJ
    JOURNAL OF PEDIATRICS, 1992, 121 (01): : 1 - 11
  • [33] Fatty acid omega-oxidation as a rescue pathway for fatty acid oxidation disorders in humans
    Wanders, Ronald J. A.
    Komen, Jasper
    Kemp, Stephan
    FEBS JOURNAL, 2011, 278 (02) : 182 - 194
  • [34] Outcome of expanded newborn screening referrals in upstate New York
    Arnold, G. L.
    DeLuca, J.
    Blakely, E.
    Howell, E.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2006, 29 : 54 - 54
  • [35] Expanded newborn screening in New South Wales: missed cases
    Estrella, Jane
    Wilcken, Bridget
    Carpenter, Kevin
    Bhattacharya, Kaustuv
    Tchan, Michel
    Wiley, Veronica
    JOURNAL OF INHERITED METABOLIC DISEASE, 2014, 37 (06) : 881 - 887
  • [36] REFLECTION ON THE EXPANDED NEWBORN SCREENING PROGRAMME IN SAUDI ARABIA: INCIDENCE OF SCREENED DISORDERS
    Mohamed, Sarar
    JOURNAL OF PAEDIATRICS AND CHILD HEALTH, 2017, 53 (10) : 1034 - 1035
  • [37] Expanded newborn screening for biochemical disorders: The effect of a false-positive result
    Gurian, Elizabeth A.
    Kinnamon, Daniel D.
    Henry, Judith J.
    Waisbren, Susan E.
    PEDIATRICS, 2006, 117 (06) : 1915 - 1921
  • [38] Dissecting the spectrum of fatty acid oxidation disorders
    Stanley, CA
    JOURNAL OF PEDIATRICS, 1998, 132 (03): : 384 - 386
  • [39] HYPERURICEMIA IN DISORDERS OF FATTY-ACID OXIDATION
    COLE, DEC
    CLARKE, LA
    MCPHEE, MD
    STMARIE, M
    CLINICAL CHEMISTRY, 1988, 34 (04) : 795 - 796
  • [40] Mitochondrial Fatty-Acid Oxidation Disorders
    Kompare, Michelle
    Rizzo, William B.
    SEMINARS IN PEDIATRIC NEUROLOGY, 2008, 15 (03) : 140 - 149