Cerebral creatine deficiency syndrome-Reference-Cited by-同舟云学术

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Cerebral creatine deficiency syndrome

Published:2024-04-01 Issue:1 Volume:136 Page:26-28
ISSN:0030-1558
Container-title:Okayama Igakkai Zasshi (Journal of Okayama Medical Association)
language:en
Short-container-title:Okayama Igakkai Zasshi (Journal of Okayama Medical Association)

Author:

Akiyama Tomoyuki¹

Affiliation:

1. Department of Pediatrics (Child Neurology), Faculty of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University

Publisher

Okayama Medical Association

Link

https://www.jstage.jst.go.jp/article/joma/136/1/136_26/_pdf

Reference2 articles.

1. Sharer JD, Bodamer O, Longo N, Tortorelli S, Wamelink MMC, et al. : Laboratory diagnosis of creatine deficiency syndromes : a technical standard and guideline of the American College of Medical Genetics and Genomics. Genet Med (2017) 19, 256-263.

2. Akiyama T, Osaka H, Shimbo H, Nakajiri T, Kobayashi K, et al. : A Japanese adult case of guanidinoacetate methyltransferase deficiency. JIMD Rep (2014) 12, 65-69.

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