Newborn Screening for Pompe Disease
Title | Newborn Screening for Pompe Disease PDF eBook |
Author | Wuh-Liang Hwu |
Publisher | MDPI |
Pages | 146 |
Release | 2021-09-02 |
Genre | Science |
ISBN | 3036505806 |
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
Title | Newborn Screening for Pompe Disease PDF eBook |
Author | Wuh-Liang Hwu |
Publisher | |
Pages | 146 |
Release | 2021 |
Genre | |
ISBN | 9783036505817 |
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.
The Metabolic & Molecular Bases of Inherited Disease
Title | The Metabolic & Molecular Bases of Inherited Disease PDF eBook |
Author | Charles R. Scriver |
Publisher | New York ; Montreal : McGraw-Hill |
Pages | 6338 |
Release | 2001 |
Genre | Genetic disorders |
ISBN | 9780071363198 |
Presents clinical, biochemical, and genetic information concerning those metabolic anomalies grouped under inborn errors of metabolism.
Newborn Screening, Diagnosis, and Treatment for Pompe Disease
Title | Newborn Screening, Diagnosis, and Treatment for Pompe Disease PDF eBook |
Author | Priya S. Kishnani |
Publisher | |
Pages | 50 |
Release | 2017 |
Genre | |
ISBN |
Inherited Metabolic Diseases
Title | Inherited Metabolic Diseases PDF eBook |
Author | Georg F. Hoffmann |
Publisher | Springer Science & Business Media |
Pages | 380 |
Release | 2009-11-21 |
Genre | Medical |
ISBN | 3540747230 |
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.
Progressive Brain Disorders in Childhood
Title | Progressive Brain Disorders in Childhood PDF eBook |
Author | Juan M. Pascual |
Publisher | Cambridge University Press |
Pages | 507 |
Release | 2017-04-20 |
Genre | Medical |
ISBN | 1107042054 |
A review of childhood neurodegenerative and other progressive but non-degenerative disorders to guide their diagnosis and management.
The Floppy Infant
Title | The Floppy Infant PDF eBook |
Author | Victor Dubowitz |
Publisher | Cambridge University Press |
Pages | 178 |
Release | 1980 |
Genre | Medical |
ISBN | 9780521412032 |
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.