A Japanese Adult Case of Guanidinoacetate Methyltransferase Deficiency

Guanidinoacetate methyltransferase (GAMT) deficiency is a rare disorder of creatine synthesis resulting in cerebral creatine depletion. We present a 38-year-old patient, the first Japanese case of GAMT deficiency. Developmental delay started after a few months of age with a marked delay in language,...

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Autori principali: Akiyama, Tomoyuki, Osaka, Hitoshi, Shimbo, Hiroko, Nakajiri, Tomoshi, Kobayashi, Katsuhiro, Oka, Makio, Endoh, Fumika, Yoshinaga, Harumi
Natura: Artigo
Lingua:Inglês
Pubblicazione: Springer International Publishing 2013
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3897789/
https://ncbi.nlm.nih.gov/pubmed/23846910
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2013_245
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