Galactosemia
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| Author | : K. Tada |
| Publisher | : Springer Science & Business Media |
| Total Pages | : 421 |
| Release | : 2013-03-14 |
| Genre | : Medical |
| ISBN | : 3662031477 |
Each disease-related chapter begins with a detailed description of the patient and the delineating symptoms used for establishing the diagnosis and differential diagnosis. The highly detailed figures illustrate the metabolic derangement in a uniform way, together with essential aspects of the genetics involved, thus affording clarification and better understanding of the treatment. Topics covered range from general aspects such as the clinical approach, emergency treatment, diagnostic procedures, and psychosocial care for the child and the family, to specific discussions of new modes of treatment, including liver, bone marrow transplantation and somatic gene therapy.
| Author | : Donough O'Brien |
| Publisher | : |
| Total Pages | : 48 |
| Release | : 1971 |
| Genre | : Galactosemia |
| ISBN | : |
| Author | : Angel L. Pey |
| Publisher | : Academic Press |
| Total Pages | : 452 |
| Release | : 2020-02-13 |
| Genre | : Science |
| ISBN | : 0128191333 |
Protein Homeostasis Diseases: Mechanisms and Novel Therapies offers an interdisciplinary examination of the fundamental aspects, biochemistry and molecular biology of protein homeostasis disease, including the use of natural and pharmacological small molecules to treat common and rare protein homeostasis disorders. Contributions from international experts discuss the biochemical and genetic components of protein homeostasis disorders, the mechanisms by which genetic variants may cause loss-of-function and gain-of-toxic-function, and how natural ligands can restore protein function and homeostasis in genetic diseases. Applied chapters provide guidance on employing high throughput sequencing and screening methodologies to develop pharmacological chaperones and repurpose approved drugs to treat protein homeostasis disorders. - Provides an interdisciplinary examination of protein homeostasis disorders, with an emphasis on treatment strategies employing small natural and pharmacological ligands - Offers applied approaches in employing high throughput sequencing and screening to develop pharmacological chaperones to treat protein homeostasis disease - Gathers expertise from a range of international chapter authors who work across various biological methods and disease specific disciplines of relevance
| Author | : Donough O'Brien |
| Publisher | : |
| Total Pages | : 52 |
| Release | : 1963 |
| Genre | : Galactosemia |
| ISBN | : |
| Author | : Laurie E. Bernstein |
| Publisher | : Springer |
| Total Pages | : 363 |
| Release | : 2015-06-03 |
| Genre | : Medical |
| ISBN | : 3319146211 |
This up-to-date reference on the nutrition management of inherited metabolic diseases (IMD) covers a wide range of these disorders, including phenylketonuria and other aminoacidopathies, organic acidemias, urea cycle disorders, fatty acid oxidation disorders, galactosemia and glycogen storage diseases. Guidance is also provided on laboratory evaluations and biochemical testing and monitoring. Topics such as newborn screening for IMD, as well as nutrition management during pregnancy and transplantation, are addressed. The book is based on 7 years of lectures delivered through Metabolic University – an interactive, didactic program designed to provide training to dietitians who work with individuals with IMD. This book provides the basic information required to manage nutrition care and is a resource for clinicians new to this complex field.
| Author | : Carla E. M. Hollak |
| Publisher | : Oxford University Press |
| Total Pages | : 657 |
| Release | : 2016 |
| Genre | : Medical |
| ISBN | : 0199972133 |
As clinical management of inherited metabolic diseases (IMDs) has improved, more patients affected by these conditions are surviving into adulthood. This trend, coupled with the widespread recognition that IMDs can present differently and for the first time during adulthood, makes the need for a working knowledge of these diseases more important than ever. Inherited Metabolic Disease in Adults offers an authoritative clinical guide to the adult manifestations of these challenging and myriad conditions. These include both the classic pediatric-onset conditions and a number of new diseases that can manifest at any age. It is the first book to give a clear and concise overview of how this group of conditions affects adult patients, a that topic will become a growing imperative for physicians across primary and specialized care.
| Author | : Charles R. Scriver |
| Publisher | : New York ; Montreal : McGraw-Hill |
| Total 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.
| Author | : National Organization for Rare Disorders |
| Publisher | : Lippincott Williams & Wilkins |
| Total Pages | : 982 |
| Release | : 2003 |
| Genre | : Medical |
| ISBN | : 9780781730631 |
NORD Guide to Rare Disorders is a comprehensive, practical, authoritative guide to the diagnosis and management of more than 800 rare diseases. The diseases are discussed in a uniform, easy-to-follow format--a brief description, signs and symptoms, etiology, related disorders, epidemiology, standard treatment, investigational treatment, resources, and references.The book includes a complete directory of orphan drugs, a full-color atlas of visual diagnostic signs, and a Master Resource List of support groups and helpful organizations. An index of symptoms and key words offers physicians valuable assistance in finding the information they need quickly.
| Author | : Bruno Bissonnette |
| Publisher | : McGraw-Hill Education / Medical |
| Total Pages | : 988 |
| Release | : 2006-08-10 |
| Genre | : Medical |
| ISBN | : |
Essential medical facts on over 2,000 genetic syndromes. Organized alphabetically, this book provides comprehensive medical coverage for each syndrome, from genetic basis to manifestations to related medical considerations.
| Author | : Anthony J.F. Griffiths |
| Publisher | : Macmillan |
| Total Pages | : 872 |
| Release | : 2008 |
| Genre | : Science |
| ISBN | : 9780716768876 |
Provides an introduction to genetic analysis. This book covers contemporary genetics, and helps students understand the essentials of genetics, featuring various experiments, teaching them how to analyze data, and how to draw their own conclusions
