Newborn Screening For Pompe Disease

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Newborn Screening For Pompe Disease

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Author : Wuh-Liang Hwu
language : en
Publisher: MDPI
Release Date : 2021-09-02

Newborn Screening For Pompe Disease written by Wuh-Liang Hwu and has been published by MDPI this book supported file pdf, txt, epub, kindle and other format this book has been release on 2021-09-02 with Science categories.

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

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Author : Wuh-Liang Hwu
language : en
Publisher:
Release Date : 2021

Newborn Screening For Pompe Disease written by Wuh-Liang Hwu and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2021 with categories.

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

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Author : Wuh-Liang Hwu
language : en
Publisher:
Release Date : 2021

Newborn Screening For Pompe Disease written by Wuh-Liang Hwu and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2021 with categories.

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

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Author : Priya S. Kishnani
language : en
Publisher:
Release Date : 2017

Newborn Screening Diagnosis And Treatment For Pompe Disease written by Priya S. Kishnani and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2017 with categories.

Attitudes Towards Newborn Screening For Pompe Disease Among Affected Adults Family Members And Parents Of Healthy Children

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Author : Yvette M. Curlis
language : en
Publisher:
Release Date : 2009

Attitudes Towards Newborn Screening For Pompe Disease Among Affected Adults Family Members And Parents Of Healthy Children written by Yvette M. Curlis and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2009 with Genetic screening categories.

Newborn Screening For Sickle Cell Disease And Other Haemoglobinopathies

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Author : Stephan Lobitz
language : en
Publisher: MDPI
Release Date : 2019-10-07

Newborn Screening For Sickle Cell Disease And Other Haemoglobinopathies written by Stephan Lobitz and has been published by MDPI this book supported file pdf, txt, epub, kindle and other format this book has been release on 2019-10-07 with Medical categories.

Newborn Screening for Sickle Cell Disease and other Haemoglobinopathies is a Special Issue of the International Journal of Neonatal Screening. Sickle cell disease is one of the most common inherited blood disorders, with a huge impact on health care systems due to high morbidity and high mortality associated with the undiagnosed disease. Newborn screening helps to make the diagnosis early and to prevent fatal complications and diagnostic odysseys. This book gives an overview of diagnostic standards in newborn screening for sickle cell disease and examples of existing newborn screening programs.

Newborn Screening Saves Lives

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Author : United States. Congress. Senate. Committee on Health, Education, Labor, and Pensions. Subcommittee on Children and Families
language : en
Publisher:
Release Date : 2014

Newborn Screening Saves Lives written by United States. Congress. Senate. Committee on Health, Education, Labor, and Pensions. Subcommittee on Children and Families and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2014 with Medical genetics categories.

Inherited Metabolic Diseases

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Author : Georg F. Hoffmann
language : en
Publisher: Springer Science & Business Media
Release Date : 2009-11-21

Inherited Metabolic Diseases written by Georg F. Hoffmann and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2009-11-21 with Medical categories.

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.

The Floppy Infant

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Author : Victor Dubowitz
language : en
Publisher: Cambridge University Press
Release Date : 1980

The Floppy Infant written by Victor Dubowitz and has been published by Cambridge University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 1980 with Medical categories.

The second edition of The Floppy Infant is devoted to the recognition and diagnosis of the floppy infant syndrome. It includes a review of some of the more important causes and provides a practical approach to the assessment and management such children require. The text of the first edition has been completely revised, but the emphasis has not changed: it remains an immensely practical and up-to-date handbook for the clinician.

Metabolic Diseases

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Author : E. Gilbert-Barness
language : en
Publisher: IOS Press
Release Date : 2017-01-06

Metabolic Diseases written by E. Gilbert-Barness and has been published by IOS Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2017-01-06 with MEDICAL categories.

The 2nd Edition of Metabolic Diseases provides readers with a completely updated description of the Foundations of Clinical Management, Genetics, and Pathology. A distinguished group of 31 expert authors has contributed 25 chapters as a tribute to Enid Gilbert-Barness and the late Lewis Barness--- both pioneers in this topic. Enid’s unique perspectives on the pathology of genetic disorders and Lew’s unsurpassed knowledge of metabolism integrated with nutrition have inspired the contributors to write interdisciplinary descriptions of generally rare, and always challenging, hereditary metabolic disorders. Discussions of these interesting genetic disorders are organized in the perspective of molecular abnormalities leading to morphologic disturbances with distinct pathology and clinical manifestations. The book emphasizes recent advances such as development of improved diagnostic methods and discovery of new, more effective therapies for many of the diseases. It includes optimal strategies for diagnosis and information on access to specialized laboratories for specific testing. The target audience is a wide variety of clinicians, including pediatricians, neonatologists, obstetricians, maternal-fetal specialists, internists, pathologists, geneticists, and laboratorians engaged in prenatal and/or neonatal screening. In addition, all scientists and health science professionals interested in metabolic diseases will find the comprehensive, integrated chapters informative on the latest discoveries. It is our hope that the 2nd Edition will open new avenues and vistas for our readers and that they will share with us the interest, excitement and passion of the research into all these challenging disorders.