Evolution of Radiographic Abnormalities Distinguishes Isolated Sulfite Oxidase Deficiency and Molybdenum Cofactor Deficiency from Neonatal Hypoxic Ischemic Encephalopathy

被引:0
|
作者
Misko, A.
Buch, K.
Musolino, P.
Confer, N.
Eichler, F.
Caruso, P.
机构
关键词
Rare Diseases; Neuroimaging;
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
233
引用
收藏
页码:S149 / S151
页数:3
相关论文
共 39 条
  • [31] Novel Imaging Finding and Novel Mutation in an Infant with Molybdenum Cofactor Deficiency, a Mimicker of Hypoxic-Ischaemic Encephalopathy
    Yoganathan, Sangeetha
    Valsa Sudhakar, Sniya
    Thomas, Maya
    Kumar Dutta, Atanu
    Danda, Sumita
    Chandran, Mahalakshmi
    IRANIAN JOURNAL OF CHILD NEUROLOGY, 2018, 12 (02) : 107 - 112
  • [32] Effect of perinatal iron deficiency on hippocampal cytochrome oxidase activity in a hypoxic-ischemic encephalopathy model
    Rao, R
    Wessendorf, M
    Wobken, J
    Sullivan, D
    Wu, M
    Georgieff, M
    JOURNAL OF INVESTIGATIVE MEDICINE, 1996, 44 (07) : A344 - A344
  • [33] Pyridox(am)ine 5′-Phosphate Oxidase Deficiency: Severe Prenatal Presentation with Hypoxic Ischemic Encephalopathy
    Alghamdi, Malak
    Arold, Stefan T.
    Hasan, Hamdi
    Bashiri, Fahad
    JOURNAL OF PEDIATRIC EPILEPSY, 2019, 8 (02) : 49 - 55
  • [34] Antiquitin deficiency: Atypical neonatal presentation with severe hypoglycemia, hyperlacticacidemia, myoclonic epilepsy and hypoxic ischemic encephalopathy
    Mercimek-Mahmutoglu, S.
    Horvath, G. A.
    Coulter-Mackie, M.
    Connolly, M.
    Waters, P. J.
    Nelson, T.
    Jakobs, C.
    Stockler-Ipsiroglu, S.
    MOLECULAR GENETICS AND METABOLISM, 2011, 102 (03) : 301 - 301
  • [35] ISOLATED SULFITE OXIDASE DEFICIENCY IN A 2 YEAR-OLD MALE, A DIAGNOSIS MISSED IN THE NEONATAL PERIOD
    Abu-El-Haija, A.
    Mendelsohn, B.
    Slavotinek, A.
    Gallagher, R.
    JOURNAL OF INVESTIGATIVE MEDICINE, 2018, 66 (01) : 171 - 172
  • [36] Genetic deficiency of the complement component C1q protects neonatal mice against hypoxic ischemic encephalopathy (HIE)
    Ten, VS
    Mazer, SP
    Minamoto, K
    Fedarau, MA
    Ratner, VI
    Botto, M
    Pinsky, DJ
    PEDIATRIC RESEARCH, 2003, 53 (04) : 541A - 541A
  • [37] ECHS1 DEFICIENCY PRESENTING AS LETHAL NEONATAL LACTIC ACIDOSIS COMPLICATED BY INTRAUTERINE GROWTH RESTRICTION AND HYPOXIC-ISCHEMIC ENCEPHALOPATHY
    Mori, Mari
    Villa, Caterina Abdala
    Zinsmeister, Michael
    Hutchinson, Melissa
    Bedoyan, Jirair
    Conces, Miriam
    Thomas, Diana
    Osman, Ahmed
    Bartholomew, Dennis
    MOLECULAR GENETICS AND METABOLISM, 2023, 138 (03) : 76 - 77
  • [38] Effect of Perinatal Brain Iron Deficiency on Cytochrome Oxidase Activity of Cognitive and Non-Cognitive Structures of the Brain Following a Hypoxic-Ischemic Injury in Neonatal Rats
    Raghavendra Rao
    Marissa deUngria
    Monica Luciana
    Charles A Nelson
    Michael K Georgieff
    Pediatric Research, 1999, 45 : 289 - 289
  • [39] Effect of perinatal brain iron deficiency on cytochrome oxidase activity of cognitive and non-cognitive structures of the brain following a hypoxic-ischemic injury in neonatal rats
    Rao, R
    deUngria, M
    Luciana, M
    Nelson, CA
    Georgieff, MK
    PEDIATRIC RESEARCH, 1999, 45 (04) : 289A - 289A