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GM1, GM2, GM3 Gangliosidosis Info

Bringing awareness and hope to those affected by GM1, GM2 or GM3 gangliosidosis disorder. Information, stories and links to donate.

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GM1, GM2, GM3 Gangliosidosis Info | gm-123.org Reviews
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Bringing awareness and hope to those affected by GM1, GM2 or GM3 gangliosidosis disorder. Information, stories and links to donate.
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GM1, GM2, GM3 Gangliosidosis Info | gm-123.org Reviews

https://gm-123.org

Bringing awareness and hope to those affected by GM1, GM2 or GM3 gangliosidosis disorder. Information, stories and links to donate.

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1

Fight Gangliosidosis, Get Involved

http://www.gm-123.org/help

No donation will be used for personal use. All money donated will be used towards raising awareness and supporting research efforts towards the cure and treatment of genetic gangliosidosis disorders. Donate to the Gangliosidosis Awareness and Research Fund. Other Places to Donate. Eli and Evan Go Fund Me. Gangliosidosis Awareness and Research Fund. Website Designed by EWD.

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GM1 Gangliosidosis Info

http://www.gm-123.org/gm1-info

What is GM1 Gangliosidosis? Which is uncoordinated movement is due to a muscle control problem that causes an inability to coordinate movements. Or loss of brain function which affects memory, thinking, language, judgment, and behavior. Which is enlargement of the internal organs in the abdomen, such as liver, spleen, stomach, kidneys, or pancreas. Can be present in the infantile form. When 2 carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condit...

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GM2 Gangliosidosis Info

http://www.gm-123.org/gm2-info

What is GM2 Gangliosidosis? The GM2 gangliosidoses an inherited lysosomal storage disorders that result from a deficiency of the enzyme beta-hexosaminidase. This enzyme catalyzes the biodegradation of fatty acid derivatives known as gangliosides. The diseases are better known by their individual names. Tay-Sachs and Sandoff disease. AB variant, and. Some Signs and Symptoms. Tay Sachs disease is typically first noticed in infants around 6 months old displaying an abnormally em response to sudden noises or...

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Gangliosidosis Info

http://www.gm-123.org/gm3-info

What is GM3 Gangliosidosis? A ganglioside biosynthesis disorder caused by (N-acetylneuraminyl)- galactosylglucosylceramide N-acetyl transferase (E.C. 2.4.192) deficiency with excessive accumulation of ganglioside GM3 in the liver and brain tissue and absence of higher ganglioside homologs. Clinical features include limpness, retarded psychomotor development, coarsening of facial features, macroglossia, gingival hypertrophy, hepatosplenomegaly, inguinal hernia, and stubby hands and fee...

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Read Our Story, Eli and Evan

http://www.gm-123.org/our_story

Eli and Evan are brothers who were both diagnosed with GM1 Gangliosidosis type 2, in August 2014. They have an older sister, Laya, who is 8 years old. She does not have GM1 and is not a carrier. August 22, 2014. I came back inside and started to clean my house. Shortly after, Dr. Aleck (a biochemical Geneticist we had seen in Phoenix, Arizona) called me. He said. I have a diagnosis for your two boys, but it isn't too good.". I felt excited that we would have a diagnosis and then, "but wait, not Evan too?

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Marilee Music, Tucson, Arizona

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You're Gonna Miss Me When I'm Gone. Marilee material/music/Vocal/Cups You re Gonna Miss Me When I m Gone.mp3. To download the song, press the eject button on the right side of the player. Go to her family's website, gm-123.org. To learn more information about the degenerative disorder they face every day. Chestnuts Roasting On An Open Fire. Cups (You Re Gonna Miss Me When I M Gone). Dreams Begin For Steven And Amy. Families Can Be Together Forever Laya 5 Years Old. Fly Me To The Moon. How The West Was Fun.

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Partners — Jenny's GM1 Journey

http://www.jennysgm1journey.org/partners

Our partners are so important, we accomplish a lot together. Jenny's medical team at Lurie Children's Hospital of Chicago and University of Minnesota Medical Center provide wisdom and expertise in the field of lysomal storage disorders. The Cure GM1 Foundation and GM 1-2-3 shared knowledge and emotional support through our family's transition and have inspired us to take action in the Midwest. If you would like to partner with us, fill out the form below and one of our staff members will get back to you.

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Info — Jenny's GM1 Journey

http://www.jennysgm1journey.org/info

The following article was published by GM1 1-2-3.org. Lysosomal Storage Disorder - Genetic Brain Disorder - Inborn Error of Metabolism and Metabolic Disorder. GM1 gangliosidosis is an inherited lysosomal storage disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. Some researchers classify this condition into three major types based on the age at which signs and symptoms first appear. The three types include:. Classic infantile (type 1),. Juvenile (type 2),. Difficulti...

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CenterStage Singers Tucson, AZ

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I started Centerstage back in 2009 and have enjoyed it so much. It grew and transformed as the years went by and my family and I gained a lot of satisfaction out of doing it. I've come to the difficult decision that I won't be running it anymore because of family demands and responsibilities. The children who I have worked with, I truly love. I have loved teaching and (hopefully) inspiring them. What fun we've had! And http:/ www.gm1gangliosidosis.blogspot.com. Sign Up ». Marilee will focus on teaching t...

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Connect – Cure GM1 Foundation

http://curegm1.org/connect-2

Non-profit foundation dedicated to find a treatment and cure for GM1 Gangliosidosis. About Cure GM1 Foundation. The internet is an amazing resource to families with rare diseases. There are many wonderful families who support each other. Connect to others and learn more about those affected by GM1. Join the Facebook Gangliosidosis Group. Fill out the Cure GM1 Foundation Registry. Read about the rare and strong children affected by GM1:. A Cure for Clara. A Future for Bo. Ruby’s Butterfly Kisses. On Cure ...

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GM1, GM2, GM3 Gangliosidosis Info

GM1 Holiday Charity Concert. Original Song Written to Help Raise Money for GM1 Research. Gangliosidosis is a lipid storage disorder caused by the accumulation of lipids known as gangliosides. There are two distinct genetic causes of the disease. Both are autosomal recessive and affect males and females equally. Learn the Details ». Where Can I Learn More? Read Stories ». How Can I Help? Get Involved ». Posted by Noah Coughlan. On Friday, March 20, 2015. JAN 2016 - Enzyme replacement for GM1-gangliosidosis.

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