Detection by newborn screening of asymptomatic, putative short-chain acylCoA dehydrogenase (SCAD) deficiency.

被引:0
|
作者
Koeberl, DD
Young, S
McDonald, M
Vockley, G
Gregersen, N
Boney, A
Millington, DS
机构
[1] Duke Univ, Med Ctr, Div Med Genet, Dept Pediat, Durham, NC USA
[2] Mayo Clin, Dept Med Genet, Rochester, MN USA
[3] Aarhus Univ Hosp, Res Unit Mol Med, DK-8200 Aarhus, Denmark
关键词
D O I
暂无
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
1529
引用
收藏
页码:278 / 278
页数:1
相关论文
共 50 条
  • [1] SHORT-CHAIN ACYLCOA DEHYDROGENASE-DEFICIENT MYOPATHY, WITH SECONDARY CARNITINE DEFICIENCY
    DIDONATO, S
    CORNELIO, F
    GELLERA, C
    PELUCHETTI, D
    RIMOLDI, M
    TARONI, F
    [J]. MUSCLE & NERVE, 1986, 9 (05) : 178 - 178
  • [2] MEDIUM CHAIN ACYLCOA DEHYDROGENASE DEFICIENCY (MCADD) STATE IN FRANCE BEFORE NEWBORN SCREENING IMPLEMENTATION
    Baruteau, J.
    Sachs, P.
    Broue, P.
    Brivet, M.
    Vianey-Saban, C.
    de Baulny, Ogier H.
    [J]. JOURNAL OF INHERITED METABOLIC DISEASE, 2011, 34 : S152 - S152
  • [3] Autoimmune Thyroiditis, Pernicious Anaemia, Vitiligo and Scleroatrophic Lichen in a Boy with Short-Chain AcylCoA Dehydrogenase Deficiency
    Stagi, Stefano
    Gasperini, Serena
    Manoni, Cristina
    Greco, Antonella
    Funghini, Silvia
    Donati, Alice
    [J]. HORMONE RESEARCH IN PAEDIATRICS, 2010, 73 (05): : 409 - 413
  • [4] Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: An examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms
    Waisbren, S. E.
    Levy, H. L.
    Noble, M.
    Matern, D.
    Gregersen, N.
    Pasley, K.
    Marsden, D.
    [J]. MOLECULAR GENETICS AND METABOLISM, 2008, 95 (1-2) : 39 - 45
  • [5] Clinical outcomes of infants with short-chain acyl-coenzyme A dehydrogenase deficiency (SCADD) detected by newborn screening
    Jethva, Reena
    Ficicioglu, Can
    [J]. MOLECULAR GENETICS AND METABOLISM, 2008, 95 (04) : 241 - 242
  • [6] Clinical outcomes of infants with short-chain acyl-coenzyme. A dehydrogenase deficiency detected by newborn screening.
    Jethva, R. N.
    Ficicioglu, C.
    [J]. MOLECULAR GENETICS AND METABOLISM, 2008, 93 (03) : 252 - 253
  • [7] Short-chain 3-hydroxyacyl-CoA dehydrogenase (SCHAD) deficiency and newborn screening by tandem mass spectrometry
    Shigematsu, Y.
    Hata, I
    Tanaka, Y.
    Shichijo, K.
    Umemoto, T.
    Nakatsu, T.
    Yoshida, T.
    Naito, E.
    [J]. JOURNAL OF INHERITED METABOLIC DISEASE, 2008, 31 : 38 - 38
  • [8] Familial presentations of short-chain 1-3-hydroxyacyl CoA dehydrogenase (SCHAD) deficiency.
    Palmer, S
    Heim-Hall, J
    Taylor, R
    Hayes, T
    Boriack, R
    Bennett, M
    [J]. GENETICS IN MEDICINE, 2004, 6 (04) : 278 - 278
  • [9] Diagnosis of a patient with a kinetic variant of medium and short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency by newborn screening
    Vilarinho, Laura
    Marques, Jorge Sales
    Rocha, Hugo
    Ramos, Altina
    Lopes, Lurdes
    Narayan, Srinivas B.
    Bennett, Michael J.
    [J]. MOLECULAR GENETICS AND METABOLISM, 2012, 106 (03) : 277 - 280
  • [10] 11-BETA-HYDROXYSTEROID DEHYDROGENASE AND THE SHORT-CHAIN ALCOHOL-DEHYDROGENASE (SCAD) SUPERFAMILY
    KROZOWSKI, Z
    [J]. MOLECULAR AND CELLULAR ENDOCRINOLOGY, 1992, 84 (1-2) : C25 - C31