X-linked creatine deficiency syndrome: A novel mutation in creatine transporter geneSLC6A8-Reference-Cited by-同舟云学术

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X-linked creatine deficiency syndrome: A novel mutation in creatine transporter geneSLC6A8

Published:2002-07-23 Issue:2 Volume:52 Page:227-231
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Ann Neurol.

Author:

Bizzi Alberto,Bugiani Marianna,Salomons Gajja S.,Hunneman Donald H.,Moroni Isabella,Estienne Margherita,Danesi Ugo,Jakobs Cornelis,Uziel Graziella

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Reference17 articles.

1. Guanidino compounds in guanidinoacetate methyltransferase deficiency, a new inborn error of creatine synthesis

2. Guanidinoacetate methyltransferase deficiency: New clinical features

3. Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: Diagnostic tools for a new inborn error of metabolism

4. Guanidinoacetate methyltransferase (GAMT) deficiency: non-invasive enzymatic diagnosis of a newly recognized inborn error of metabolism

Cited by 83 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. X-linked creatine transporter (SLC6A8) deficiency in females: Difficult to recognize, but a potentially treatable disease;Molecular Genetics and Metabolism;2023-11

2. Diagnosis and Treatment of X-Linked Creatine Transporter Deficiency: Case Report and Literature Review;Brain Sciences;2023-09-28

3. Editorial: Chloride homeostasis in animal cell physiology;Frontiers in Physiology;2023-06-05

4. Current and potential new treatment strategies for creatine deficiency syndromes;Molecular Genetics and Metabolism;2022-01

5. SLC gene mutations and pediatric neurological disorders: diverse clinical phenotypes in a Saudi Arabian population;Human Genetics;2021-11-19

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