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
  • [1] OPHTHALMIC ABNORMALITIES IN MOLYBDENUM COFACTOR DEFICIENCY AND ISOLATED SULFITE OXIDASE DEFICIENCY
    LUEDER, GT
    STEINER, RD
    JOURNAL OF PEDIATRIC OPHTHALMOLOGY & STRABISMUS, 1995, 32 (05) : 334 - 337
  • [2] Prenatal diagnosis of molybdenum cofactor deficiency and isolated sulfite oxidase deficiency
    Johnson, JL
    PRENATAL DIAGNOSIS, 2003, 23 (01) : 6 - 8
  • [3] Sulfite oxidase activity deficiency caused by cofactor molybdenum deficiency: A case of early severe encephalopathy
    Durousset, C.
    Gay, C.
    Magnin, S.
    Acquaviva, C.
    Patural, H.
    ARCHIVES DE PEDIATRIE, 2016, 23 (03): : 292 - 296
  • [4] Isolated sulfite oxidase deficiency, a rare neurodegenerative disorder which mimics hypoxic-ischemic encephalopathy
    Balasubramaniam, Shanti
    Suan, LimKia
    Jamil, Fadhilah Mohd
    Abdullah, Noor Kamila
    Desa, Norsiah Mohd
    JOURNAL OF PEDIATRIC NEUROLOGY, 2012, 10 (01) : 67 - 71
  • [5] Development of a Scoring System to Track Disease Burden in Molybdenum Cofactor Deficiency and Isolated Sulfite Oxidase Deficiency
    Misko, A.
    Loes, D.
    Musolino, P.
    Gonzalez, A.
    Aziz-Bose, R.
    Caruso, P.
    Eichler, F.
    ANNALS OF NEUROLOGY, 2016, 80 : S393 - S394
  • [6] Consensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficiencies
    Schwahn, Bernd
    van Spronsen, Francjan
    Misko, Albert
    Pavaine, Julija
    Holmes, Victoria
    Spiegel, Ronen
    Schwarz, Guenter
    Wong, Flora
    Horman, Alistair
    Pitt, James
    Sass, Joern Oliver
    Lubout, Charlotte
    JOURNAL OF INHERITED METABOLIC DISEASE, 2024, 47 (04) : 598 - 623
  • [7] Molybdenum cofactor deficiency: Report of three cases presenting as hypoxic-ischemic encephalopathy
    Topcu, M
    Coskun, T
    Haliloglu, G
    Saatci, I
    JOURNAL OF CHILD NEUROLOGY, 2001, 16 (04) : 264 - 270
  • [8] Delineating the phenotypic spectrum of sulfite oxidase and molybdenum cofactor deficiency
    Misko, Albert L.
    Liang, Ye
    Kohl, Joshua B.
    Eichler, Florian
    NEUROLOGY-GENETICS, 2020, 6 (04)
  • [9] Teaching NeuroImages: Early imaging of sulfite oxidase deficiency mimics severe hypoxic ischemic encephalopathy
    Scramstad, Carly
    Moffatt, Hayley
    Rafay, Mubeen F.
    NEUROLOGY, 2020, 95 (13) : E1913 - E1914
  • [10] Very early neuroimages of sulfite oxidase deficiency mimicing severe hypoxic ischemic encephalopathy in a neonate
    Ren, Zhuxiao
    Wang, Jianlan
    Liang, Runqiang
    Lin, Yingyi
    Xu, Fang
    Zheng, Xuaner
    Haoming, Yang
    Yang, Jie
    PEDIATRICS AND NEONATOLOGY, 2021, 62 (04): : 443 - 444