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I know a girl with Z's and she just turned 18.
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∙ 10y ago
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What organelle does Zellweger syndrome affect?
peroxisomes
What is short person syndrome?
Usually called, "Napoleon Syndrome" since Napoleon was very short in stature.
What is the age of the oldest person with Edwards syndrome?
Actually there is a story I read saying...21 years ago my sister was born with Edwards Syndrome or Complete Trisomy 18.The doctors told my parents that helping this baby is a lost cause and she will only live for a month. My parents refused to give up and not help her.My sister turned 21 on Sunday. She is the oldest living person with Complete Trisomy 18.A parent's love GMH.Comments on #60556 (5)May 26, 2010 12:00 AM by Cody P, Crown Point, IN - Inspiring featsShare1065
Why does an individual with Turners syndrome often NOT get diagnosed till adolescence?
Sometimes the person does not have obvious characteristics of Turner syndrome, so they do not get diagnosed as a child. When they become adolescent and do not go through puberty that is what leads the doctor to test the person for Turner syndrome.
How does a person inherit Goldenhar Syndrome?
Goldenhar syndrome is not an inherited syndrome, it is just in a persons genes and there is no way to stop a baby from getting it in the womb. Goldenhar syndrome is not developed or passed on to the foetus it is just there. hope this helped you as i am a sufferer of goldenhar syndrome myself! :)
Is Zellweger syndrome dominant or recessive?
Zellweger syndrome is autosomal recessive.
Can you get it from something or someone zellweger syndrome?
disease you can get from another person or animal
What is the treatment for Zellweger syndrome?
There is no cure for Zellweger syndrome and treatment is based solely on lessening the symptoms and supporting the involved organs.
How may Zellweger syndrome be said to be a common condition?
The incidence of Zellweger syndrome worldwide is roughly one in 100,000 births.
How is Zellweger syndrome caused?
Zellweger syndrome is caused by mutations in any one of several different genes involved in the function of the peroxisome
Which chromosomes are affected by Zellweger syndrome?
all of them
What organelle does Zellweger syndrome affect?
peroxisomes
How is Zellweger syndrome manifest in babies?
Typically, babies with Zellweger syndrome have severe weakness, hyptonia (loss of muscle tone), and often have neonatal seizures
What causes zellweger syndrome?
Zellweger syndrome is caused by mutations in any one of at least 12 genes ; mutations in the PEX1 gene are the most common cause. It is inherited in an autosomal recessive manner. There is no cure for Zellweger syndrome; treatment is generally symptomatic and supportive.
What skin cell abnormalities are observed in patients with Zellweger syndrome?
in Zellweger syndrome, these cells appear to have ghost-like peroxisomes, which are caused by an absence of specific proteins inside the organelles that are recruited into the membranes.
How is Zellweger syndrome diagnosed?
Zellweger syndrome is diagnosed by measuring metabolic compounds in blood samples from patients. Various fatty acids, plasmalogens, pipecolic acid, and bile acid intermediates are usually studied
What is zellweger syndrome?
From wikipedia.com Zellweger syndrome, also called cerebrohepatorenal syndrome is a rare, congenital disorder (present at birth), characterized by the reduction or absence of peroxisomes (cell structures that rid the body of toxic substances) in the cells of the liver, kidneys, and brain.
