A NEW VARIANT OF LATE-ONSET MYOPHOSPHORYLASE DEFICIENCY

被引:26
|
作者
KOST, GJ [1 ]
VERITY, MA [1 ]
机构
[1] UNIV CALIF LOS ANGELES, DEPT NEUROPATHOL, LOS ANGELES, CA 90024 USA
关键词
D O I
10.1002/mus.880030302
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
引用
收藏
页码:195 / 201
页数:7
相关论文
共 50 条
  • [21] Late-onset ornithine transcarbamylase deficiency associated with hyperammonemia
    Daijo K.
    Kawaoka T.
    Nakahara T.
    Nagaoki Y.
    Tsuge M.
    Hiramatsu A.
    Imamura M.
    Kawakami Y.
    Aikata H.
    Hara K.
    Tajima G.
    Kobayashi M.
    Chayama K.
    Clinical Journal of Gastroenterology, 2017, 10 (4) : 383 - 387
  • [22] Dietary treatment in late-onset acid maltase deficiency
    Bodamer, OAF
    Leonard, JV
    Halliday, D
    EUROPEAN JOURNAL OF PEDIATRICS, 1997, 156 (Suppl 1) : S39 - S42
  • [23] Hyperammonemia in a Woman with Late-onset Ornithine Transcarbamylase Deficiency
    Koya, Yudai
    Shibata, Michihiko
    Senju, Michio
    Honma, Yuichi
    Hiura, Masaaki
    Ishii, Masahiro
    Matsumoto, Shirou
    Harada, Masan
    INTERNAL MEDICINE, 2019, 58 (07) : 937 - 942
  • [24] Early intervention for late-onset ornithine transcarbamylase deficiency
    Fujisawa, Daisuke
    Mitsubuchi, Hiroshi
    Matsumoto, Shirou
    Iwai, Masanori
    Nakamura, Kimitoshi
    Hoshide, Ryuji
    Harada, Nawomi
    Yoshino, Makoto
    Endo, Fumio
    PEDIATRICS INTERNATIONAL, 2015, 57 (01) : E1 - E3
  • [25] Hyperammonemia in a Patient with Late-Onset Ornithine Carbamoyltransferase Deficiency
    Choi, Dae Eun
    Lee, Kang Wook
    Shin, Young Tai
    Na, Ki Ryang
    JOURNAL OF KOREAN MEDICAL SCIENCE, 2012, 27 (05) : 556 - 559
  • [26] A CASE OF LATE-ONSET ACID MALTASE DEFICIENCY (AMD)
    WOLFE, D
    BENYOSEPH, Y
    JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 1985, 44 (03): : 335 - 335
  • [27] XIAP deficiency is a mendelian cause of late-onset IBD
    Speckmann, Carsten
    Ehl, Stephan
    GUT, 2014, 63 (06) : 1031 - U2
  • [28] BIOTINIDASE DEFICIENCY - THE ENZYMATIC DEFECT IN LATE-ONSET MULTIPLE CARBOXYLASE DEFICIENCY
    WOLF, B
    GRIER, RE
    ALLEN, RJ
    GOODMAN, SI
    KIEN, CL
    CLINICA CHIMICA ACTA, 1983, 131 (03) : 273 - 281
  • [29] LATE-ONSET STEROID 21-HYDROXYLASE DEFICIENCY - A VARIANT OF CLASSICAL CONGENITAL ADRENAL-HYPERPLASIA
    KOHN, B
    LEVINE, LS
    POLLACK, MS
    PANG, S
    LORENZEN, F
    LEVY, D
    LERNER, AJ
    RONDANINI, GF
    DUPONT, B
    NEW, MI
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1982, 55 (05): : 817 - 827
  • [30] DOUBLE ENZYME DEFICIENCY - NEGATIVE MYOPHOSPHORYLASE REACTION IN TYPE-II GLYCOGENOSIS OF LATE ONSET
    KORNFELD, M
    JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 1979, 38 (03): : 327 - 327