胍乙酸甲基转移酶（GAMT）缺乏症，一种脑肌酸缺乏综合征：一种罕见的可治疗的代谢紊乱疾病。 - Suppr

Guanidinoacetate Methyltransferase (GAMT) Deficiency, A Cerebral Creatine Deficiency Syndrome: A Rare Treatable Metabolic Disorder.

作者信息

Yoganathan Sangeetha, Arunachal Gautham, Kratz Lisa, Varman Mugil, Sudhakar Sniya Valsa, Oommen Samuel Philip, Jain Shikha, Thomas Maya, Babuji Manimegalai

机构信息

Department of Neurological Sciences, Christian Medical College, Vellore, Tamil Nadu, India.

Department of Medical Genetics, Christian Medical College, Vellore, Tamil Nadu, India.

出版信息

Ann Indian Acad Neurol. 2020 May-Jun;23(3):419-421. doi: 10.4103/aian.AIAN_172_19. Epub 2020 Jan 3.

DOI:10.4103/aian.AIAN_172_19

PMID:32606564

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7313585/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/abe2/7313585/b2dcda615999/AIAN-23-419-g001.jpg

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本文引用的文献

Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study.

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Inborn error metabolic screening in individuals with nonsyndromic autism spectrum disorders.

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Treatment of Creatine Transporter (SLC6A8) Deficiency With Oral S-Adenosyl Methionine as Adjunct to L-arginine, Glycine, and Creatine Supplements.

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Carrier frequency of guanidinoacetate methyltransferase deficiency in the general population by functional characterization of missense variants in the GAMT gene.

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Mol Genet Metab. 2014 Aug;112(4):259-74. doi: 10.1016/j.ymgme.2014.05.011. Epub 2014 May 29.

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Mol Genet Metab. 2014 Jan;111(1):16-25. doi: 10.1016/j.ymgme.2013.10.018. Epub 2013 Nov 7.

High frequency of creatine deficiency syndromes in patients with unexplained mental retardation.

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Guanidinoacetate Methyltransferase (GAMT) Deficiency, A Cerebral Creatine Deficiency Syndrome: A Rare Treatable Metabolic Disorder.

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