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Pompe Disease
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Pompe Disease
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Newborn Screening for Pompe Disease
Pompe disease, also known as acid maltase deficiency or acid alpha-glucosidase deficiency, in its most severe form results in a rapidly progressive, neonatal-onset skeletal and cardiomyopathy, leading to early infantile death without treatment. The development of treatment with recombinant enzyme replacement therapy radically transformed the clinical trajectory of those affected, enabling long-term ventilator-free survival with resolution of cardiomyopathy. These positive clinical outcomes resulted in the implementation of newborn screening programs for Pompe disease across the world. This Special Issue highlights some of the experiences of Pompe screening programs worldwide and discusses public policy and ethical issues elicited by presymptomatic screening for Pompe disease.
Pompe Disease
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Pompe's Disease: New Insights for the Healthcare Professional: 2012 Edition
Pompe's Disease: New Insights for the Healthcare Professional: 2012 Edition is a ScholarlyPaper™ that delivers timely, authoritative, and intensively focused information about Pompe's Disease in a compact format. The editors have built Pompe's Disease: New Insights for the Healthcare Professional: 2012 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Pompe's Disease in this eBook to be deeper than what you can access anywhere else, as well as consistently reliable, authoritative, informed, and relevant. The content of Pompe's Disease: New Insights for the Healthcare Professional: 2012 Edition has been produced by the world’s leading scientists, engineers, analysts, research institutions, and companies. All of the content is from peer-reviewed sources, and all of it is written, assembled, and edited by the editors at ScholarlyEditions™ and available exclusively from us. You now have a source you can cite with authority, confidence, and credibility. More information is available at http://www.ScholarlyEditions.com/.
Newborn Screening for Pompe Disease
Pompe disease, also known as acid maltase deficiency or acid alpha-glucosidase deficiency, in its most severe form results in a rapidly progressive, neonatal-onset skeletal and cardiomyopathy, leading to early infantile death without treatment. The development of treatment with recombinant enzyme replacement therapy radically transformed the clinical trajectory of those affected, enabling long-term ventilator-free survival with resolution of cardiomyopathy. These positive clinical outcomes resulted in the implementation of newborn screening programs for Pompe disease across the world. This Special Issue highlights some of the experiences of Pompe screening programs worldwide and discusses public policy and ethical issues elicited by presymptomatic screening for Pompe disease.
My Fight Never Ends...
Hey there, my name is Yamila Romero. I was born with Pompe disease and this book will help explain my life since birth.Pompe disease is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially muscles, impairs their ability to function normally. In other words, you lose muscle control and end up in a wheelchair, dependent upon others to do things that you can no longer do myself. I have many ups and downs and it's never easy to deal with a rare disease.
Super Pompe Powers
Sometimes you have to look at little harder to see someone's superpowers. Join Helen as she reveals her Super Pompe Powers and discusses the causes and treatment for Pompe disease.
My Diary
MY PRIVATE DIARY There is a German proverb which says, "Hope is the last to die" Maybe this book can help you. Glycogen storage disease type II, also called Pompe disease, is an autosomal recessive metabolic disorder[1] which damages muscle and nerve cells throughout the body. It is caused by an accumulation of glycogen in the lysosome due to deficiency of the lysosomal acid alpha-glucosidase enzyme. It is the only glycogen storage disease with a defect in lysosomal metabolism, and the first glycogen storage disease to be identified, in 1932 by the Dutch pathologist J. C. Pompe. The Cover comes with a looped ribbon that represents support for the patient or survivor. The journal has soft covers and is perfect bound so pages will not fallout. The great 8,5" x 11" Format means there is enough space for your notes. Huge 8,5" x 11" Format. Like DIN A4. 120 Pages for your own wishes, notes, thoughts White Paper with lined Pages Perfect new Bound so Pages will not fall out Fantastic Unique Colored Ribbon Awareness Cover.
