https://scholars.lib.ntu.edu.tw/handle/123456789/525158
標題: | Unusual spinal cord lesions in late-onset non-ketotic hyperglycinemia | 作者: | Wei S.-H. WEN-CHIN WENG NI-CHUNG LEE WUH-LIANG HWU WANG-TSO LEE |
公開日期: | 2011 | 卷: | 26 | 期: | 7 | 起(迄)頁: | 900-903 | 來源出版物: | Journal of Child Neurology | 摘要: | Non-ketotic hyperglycinemia is a disorder of glycine metabolism with severe neurologic regression in the infantile stage, while late-onset non-ketotic hyperglycinemia is a rare form characterized by variable clinical, biochemical, and imaging features. This report describes a boy of late-onset non-ketotic hyperglycinemia presenting with an unusual long tract-like lesion of the spinal cord aside by magnetic resonance imaging. This is the first reported child of non-ketotic hyperglycinemia with abnormal imaging features of spinal cord. ? The Author(s) 2011. |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-79959741831&doi=10.1177%2f0883073810393965&partnerID=40&md5=66a84ab401753c33ea9aa878a014c489 https://scholars.lib.ntu.edu.tw/handle/123456789/525158 |
ISSN: | 0883-0738 | DOI: | 10.1177/0883073810393965 | SDG/關鍵字: | glycine; amino acid blood level; article; case report; cerebrospinal fluid; child; corpus callosum; frontal gyrus; gait disorder; human; hyperglycinemia; leukodystrophy; male; medical history; medulla oblongata; nuclear magnetic resonance imaging; preschool child; priority journal; spinal cord lesion; white matter; Age of Onset; Child; Disease Progression; Humans; Hyperglycinemia, Nonketotic; Leukoencephalopathies; Magnetic Resonance Imaging; Male; Spinal Cord; Spinal Cord Diseases |
顯示於: | 醫學系 |
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