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Archives for Creatine deficiency disorders

My wonderful experience as a visiting professor in Japan

I was privileged enough to be asked to Ritsumeikan University  Shiga, Japan as an invited lecturer asked to give a series of lectures during their concentrated summer program. The theme of the lecture program was “brain pathologies and therapies.” Yes that is a broad topic, but they wanted personal expert presentations focusing on those areas [...]

Guanidino Acid Methyl Transferase (GAMT) support group on facebook conversation thread on ornithine and creatine results.

The following is an annotated and redacted conversation from the GAMT support group on facebook. https://www.facebook.com/#!/groups/189179557787307/. Some of us participated in the dialogue and wanted to share this with the broader community. I’ve tried to stay true to the meaning and provide transitions between comments from individuals participating in the discussion. Please remember to always [...]

Discovery of a treatment for one of the causes of Autism Spectrum Disorder: Creatine transporter deficiency

We have published a paper showing our discovery of a true treatment for ONE of the causes of autism. The type of autism spectrum disorder is the creatine transporter deficiency, where the brain lacks creatine because it cannot be transported into the brain.

News for Creatine Deficiency Syndromes

Here in Cincinnati we (University of Cincinnati and Cincinnati Children’s Hospital Medical Center*) are launching the first of its kind diagnostic for all creatine deficiency disorders

Questions from a Parent of a Newly Diagnosed Creatine Transporter Deficiency Child

Joseph, Thank you for the explanation, it’s concise while remaining non-medical , exactly the right dosage of information to help folks like me