OPHTHALMIC ABNORMALITIES IN MOLYBDENUM COFACTOR DEFICIENCY AND ISOLATED SULFITE OXIDASE DEFICIENCY

被引：0
|
作者：
LUEDER, GT
STEINER, RD
机构：
来源：
JOURNAL OF PEDIATRIC OPHTHALMOLOGY & STRABISMUS | 1995年 / 32卷 / 05期
关键词：
D O I：
暂无
中图分类号：
R77 [眼科学];
学科分类号：
100212 ;
摘要：
引用
收藏
页码：334 / 337
页数：4
相关论文
共 50 条
  • [1] Prenatal diagnosis of molybdenum cofactor deficiency and isolated sulfite oxidase deficiency
    Johnson, JL
    PRENATAL DIAGNOSIS, 2003, 23 (01) : 6 - 8
  • [2] Evolution of Radiographic Abnormalities Distinguishes Isolated Sulfite Oxidase Deficiency and Molybdenum Cofactor Deficiency from Neonatal Hypoxic Ischemic Encephalopathy
    Misko, A.
    Buch, K.
    Musolino, P.
    Confer, N.
    Eichler, F.
    Caruso, P.
    ANNALS OF NEUROLOGY, 2019, 86 : S149 - S151
  • [3] 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
  • [4] 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
  • [5] 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)
  • [6] Sulfite oxidase and molybdenum cofactor deficiency: EEG, metabolic and neuroradialogic study
    Martinelli, D.
    Mariotti, P.
    Stefanini, M. C.
    Battaglia, D.
    Antuzzi, D.
    Veredice, C.
    Sacco, A.
    Guzzetta, F.
    Mercuri, E.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2008, 31 : 2 - 2
  • [7] MOLYBDENUM COFACTOR DEFICIENCY IN A PATIENT PREVIOUSLY CHARACTERIZED AS DEFICIENT IN SULFITE OXIDASE
    JOHNSON, JL
    WUEBBENS, MM
    MANDELL, R
    SHIH, VE
    BIOCHEMICAL MEDICINE AND METABOLIC BIOLOGY, 1988, 40 (01): : 86 - 93
  • [8] COMBINED XANTHINE AND SULFITE OXIDASE DEFECT DUE TO A DEFICIENCY OF MOLYBDENUM COFACTOR
    ROESEL, RA
    BOWYER, F
    BLANKENSHIP, PR
    HOMMES, FA
    JOURNAL OF INHERITED METABOLIC DISEASE, 1986, 9 (04) : 343 - 347
  • [9] 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
  • [10] A defect in molybdenum cofactor binding causes an attenuated form of sulfite oxidase deficiency
    Kaczmarek, Alexander Tobias
    Bender, Daniel
    Gehling, Titus
    Kohl, Joshua Benedict
    Daimagueler, Hulya-Sevcan
    Santamaria-Araujo, Jose Angel
    Liebau, Max Christoph
    Koy, Anne
    Cirak, Sebahattin
    Schwarz, Guenter
    JOURNAL OF INHERITED METABOLIC DISEASE, 2022, 45 (02) : 169 - 182
12345