期刊
JOURNAL OF COMPUTER ASSISTED TOMOGRAPHY
卷 27, 期 1, 页码 44-47出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/00004728-200301000-00009
关键词
magnetic resonance spectroscopy; creatine; creatine transporter deficiency; CRTR; SLC6A8; X-linked
An X-linked creatine deficiency syndrome caused by mutations in the creatine transporter gene SLC6A8/CRTR mapped to Xq28 has recently been described. Essential in the recognition of this disorder is the absence of creatine on proton magnetic resonance spectroscopy (MRS) examination. A 9-day-old heterozygous female child with this syndrome demonstrated a significant reduction of creatine on proton MRS. She is a carrier of the R514X nonsense mutation.
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