Child Neurology: Exaggerated dermal melanocytosis in a hypotonic infant A harbinger of GM1 gangliosidosis

被引：7
作者：
Armstrong-Javors, Amy [1 ]
Chu, Catherine J.
机构：
[1] Massachusetts Gen Hosp, Dept Neurol, Div Child Neurol, Boston, MA 02114 USA
来源：
NEUROLOGY | 2014年 / 83卷 / 17期
关键词：
GM1-GANGLIOSIDOSIS; DISEASE;
D O I：
10.1212/WNL.0000000000000912
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
[No abstract available]
引用
收藏
页码：E166 / E168
页数：3
相关论文
共 11 条
  • [1] Dermal melanocytosis associated with GM1-gangliosidosis type 1
    Bloch, LD
    Matsumoto, FY
    Belda, W
    Giugliani, R
    Menezes, LF
    Kim, CA
    Machado, MCDM
    [J]. ACTA DERMATO-VENEREOLOGICA, 2006, 86 (02) : 156 - 158
  • [2] GM1 gangliosidosis:: Review of clinical, molecular, and therapeutic aspects
    Brunetti-Pierri, Nicola
    Scaglia, Fernando
    [J]. MOLECULAR GENETICS AND METABOLISM, 2008, 94 (04) : 391 - 396
  • [3] Dweikat Imad, 2011, Indian J Dermatol, V56, P98, DOI 10.4103/0019-5154.77567
  • [4] Mongolian Spots Are Not Always a Benign Sign
    Hackbart, Barbara Amorim
    Arita, Juliana Harumi
    Pinho, Ricardo Silva
    Masruha, Marcelo Rodrigues
    Pereira Vilanova, Luiz Celso
    [J]. JOURNAL OF PEDIATRICS, 2013, 162 (05) : 1070 - 1070
  • [5] Hammer M F., 1993, GeneReviews()
  • [6] Kulkarni Ketan Prasad, 2009, Indian J Hum Genet, V15, P38, DOI 10.4103/0971-6866.50870
  • [7] Structural bases of GM1 gangliosidosis and Morquio B disease
    Morita, Mizuki
    Saito, Seiji
    Ikeda, Kazuyoshi
    Ohno, Kazuki
    Sugawara, Kanako
    Suzuki, Toshihiro
    Togawa, Tadayasu
    Sakuraba, Hitoshi
    [J]. JOURNAL OF HUMAN GENETICS, 2009, 54 (09) : 510 - 515
  • [8] GENERALIZED GANGLIOSIDOSIS - BETA-GALACTOSIDASE DEFICIENCY
    OKADA, S
    OBRIEN, JS
    [J]. SCIENCE, 1968, 160 (3831) : 1002 - &
  • [9] Bone marrow transplantation correcting β-galactosidase activity does not influence neurological outcome in juvenile GM1-gangliosidosis
    Shield, JPH
    Stone, J
    Steward, CG
    [J]. JOURNAL OF INHERITED METABOLIC DISEASE, 2005, 28 (05) : 797 - 798
  • [10] Chaperone therapy update: Fabry disease, GM1-gangliosidosis and Gaucher disease
    Suzuki, Yoshiyuki
    [J]. BRAIN & DEVELOPMENT, 2013, 35 (06) : 515 - 523
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