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Newborn Screening for Pompe Disease

2021-09-02 Science
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Release : 2021-09-02
Genre : Science
Kind : eBook
Book Rating : 806/5 ( reviews)

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Book Synopsis Newborn Screening for Pompe Disease by : Wuh-Liang Hwu

Download or read book Newborn Screening for Pompe Disease written by Wuh-Liang Hwu. This book was released on 2021-09-02. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Newborn Screening for Pompe Disease

2021
Download Newborn Screening for Pompe Disease PDF Online Free

Author :
Release : 2021
Genre :
Kind : eBook
Book Rating : 817/5 ( reviews)

GET EBOOK


Book Synopsis Newborn Screening for Pompe Disease by : Wuh-Liang Hwu

Download or read book Newborn Screening for Pompe Disease written by Wuh-Liang Hwu. This book was released on 2021. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Newborn Screening, Diagnosis, and Treatment for Pompe Disease

2017
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Author :
Release : 2017
Genre :
Kind : eBook
Book Rating : /5 ( reviews)

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Book Synopsis Newborn Screening, Diagnosis, and Treatment for Pompe Disease by : Priya S. Kishnani

Download or read book Newborn Screening, Diagnosis, and Treatment for Pompe Disease written by Priya S. Kishnani. This book was released on 2017. Available in PDF, EPUB and Kindle. Book excerpt:

Progressive Brain Disorders in Childhood

2017-04-20 Medical
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Release : 2017-04-20
Genre : Medical
Kind : eBook
Book Rating : 054/5 ( reviews)

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Book Synopsis Progressive Brain Disorders in Childhood by : Juan M. Pascual

Download or read book Progressive Brain Disorders in Childhood written by Juan M. Pascual. This book was released on 2017-04-20. Available in PDF, EPUB and Kindle. Book excerpt: A review of childhood neurodegenerative and other progressive but non-degenerative disorders to guide their diagnosis and management.

Inherited Metabolic Diseases

2009-11-21 Medical
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Release : 2009-11-21
Genre : Medical
Kind : eBook
Book Rating : 230/5 ( reviews)

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Book Synopsis Inherited Metabolic Diseases by : Georg F. Hoffmann

Download or read book Inherited Metabolic Diseases written by Georg F. Hoffmann. This book was released on 2009-11-21. Available in PDF, EPUB and Kindle. Book excerpt: The explosion of insights in the field of metabolic disease has shed new light on diagnostic as well as treatment options. ‘Inherited Metabolic Disease – A Clinical Approach’ is written with a reader-friendly consistent structure. It helps the reader to find the information in an easily accessible and rapid way when needed. Starting with an overview of the major groups of metabolic disorders it includes algorithms with questions and answers as well as numerous graphs, metabolic pathways, and an expanded index. Clinical and diagnostic details with a system and symptom based are given to facilitate an efficient and yet complete diagnostic work-up of individual patients. Further, it offers helpful advice for emergency situations, such as hypoglycemia, hyperammonemia, lactic acidosis or acute encephalopathy. Five different indices allow a quick but complete orientation for common important constellations. Last but not least, it has an appendix with a guide to rapid differential diagnosis of signs and symptoms and when not to suspect metabolic disease. It will help physicians to diagnose patients they may otherwise fail to diagnose and to reduce unnecessary referrals. For metabolic and genetic specialists especially the indices will be helpful as a quick look when being called for advice. It has all it needs to become a gold standard defining the clinical practice in this field.

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