Follow Up Testing For Metabolic Diseases Identified By Expanded Newborn Screening Using Tandem Mass Spectrometry

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Neonatal Screening for Inborn Errors of Metabolism

Author : H. Bickel
Publisher : Springer
ISBN 13 : 9783642674907
Total Pages : 0 pages
Book Rating : 4.6/5 (749 download)

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Book Synopsis Neonatal Screening for Inborn Errors of Metabolism by : H. Bickel

Download or read book Neonatal Screening for Inborn Errors of Metabolism written by H. Bickel and published by Springer. This book was released on 2011-11-15 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Although neonatal screening was begun only 20 years ago, and is consequently still in its early stages, it is already a classic example of efficient preventive pediatrics. At present, routine neonatal screening covering a satisfactory percentage of newborn babies is carried out in only a small part ofthe world. For some five diseases enough infants have been screened to give reasonably reliable information about the frequency of these diseases in various populations. Interesting differences are beginning to appear in popula tions of different ethnic and racial background. The medical importance of neonatal screening is especially obvious in metabolic diseases that are not too rare and for which effective treatment depends upon an early diagnosis, such as phenylketonuria, galactosemia, and - a more recent screening pro gram - hypothyroidism. About 1 of 4000 newborns is affected with hypothyroidism and can receive timely substitution with thyroid hormone. Of 34.5 million babies tested for phenylketonuria, 3000 cases have been diagnosed in time to prevent mental retardation by means of dietary therapy.

Principles and Practice of Screening for Disease

Author : J. M. G. Wilson
Publisher :
ISBN 13 : 9789241300346
Total Pages : 163 pages
Book Rating : 4.3/5 (3 download)

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Book Synopsis Principles and Practice of Screening for Disease by : J. M. G. Wilson

Download or read book Principles and Practice of Screening for Disease written by J. M. G. Wilson and published by . This book was released on 1968 with total page 163 pages. Available in PDF, EPUB and Kindle. Book excerpt: The basic principles of early disease detection, practical considerations, including the application of screening procedures in a number of different disease conditions, and, finally, present techniques and possible developments in methodology. Screening for the chronic non-communicable diseases prevalent in the more advanced countries froms the main subject of the report, but the problems facing countries at other stages of development and with different standards and types of medical care are also discussed, and because of this communicable disease detection is also dealth with to some extent.

Mass Spectrometry for the Clinical Laboratory

Author : Hari Nair
Publisher : Academic Press
ISBN 13 : 0128009926
Total Pages : 306 pages
Book Rating : 4.1/5 (28 download)

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Book Synopsis Mass Spectrometry for the Clinical Laboratory by : Hari Nair

Download or read book Mass Spectrometry for the Clinical Laboratory written by Hari Nair and published by Academic Press. This book was released on 2016-11-02 with total page 306 pages. Available in PDF, EPUB and Kindle. Book excerpt: Mass Spectrometry for the Clinical Laboratory is an accessible guide to mass spectrometry and the development, validation, and implementation of the most common assays seen in clinical labs. It provides readers with practical examples for assay development, and experimental design for validation to meet CLIA requirements, appropriate interference testing, measuring, validation of ion suppression/matrix effects, and quality control. These tools offer guidance on what type of instrumentation is optimal for each assay, what options are available, and the pros and cons of each. Readers will find a full set of tools that are either directly related to the assay they want to adopt or for an analogous assay they could use as an example. Written by expert users of the most common assays found in a clinical laboratory (clinical chemists, toxicologists, and clinical pathologists practicing mass spectrometry), the book lays out how experts in the field have chosen their mass spectrometers, purchased, installed, validated, and brought them on line for routine testing. The early chapters of the book covers what the practitioners have learned from years of experience, the challenges they have faced, and their recommendations on how to build and validate assays to avoid problems. These chapters also include recommendations for maintaining continuity of quality in testing. The later parts of the book focuses on specific types of assays (therapeutic drugs, Vitamin D, hormones, etc.). Each chapter in this section has been written by an expert practitioner of an assay that is currently running in his or her clinical lab. Provides readers with the keys to choosing, installing, and validating a mass spectrometry platform Offers tools to evaluate, validate, and troubleshoot the most common assays seen in clinical pathology labs Explains validation, ion suppression, interference testing, and quality control design to the detail that is required for implementation in the lab

Newborn Screening for Pompe Disease

Author : Wuh-Liang Hwu
Publisher : MDPI
ISBN 13 : 3036505806
Total Pages : 146 pages
Book Rating : 4.0/5 (365 download)

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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 and published by MDPI. This book was released on 2021-09-02 with total page 146 pages. 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.

JIMD Reports - Case and Research Reports, 2011/2

Author : SSIEM
Publisher : Springer Science & Business Media
ISBN 13 : 364224758X
Total Pages : 123 pages
Book Rating : 4.6/5 (422 download)

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Book Synopsis JIMD Reports - Case and Research Reports, 2011/2 by : SSIEM

Download or read book JIMD Reports - Case and Research Reports, 2011/2 written by SSIEM and published by Springer Science & Business Media. This book was released on 2011-11-25 with total page 123 pages. Available in PDF, EPUB and Kindle. Book excerpt: JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.

Inherited Metabolic Diseases

Author : Georg F. Hoffmann
Publisher : Springer Science & Business Media
ISBN 13 : 3540747230
Total Pages : 380 pages
Book Rating : 4.5/5 (47 download)

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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 and published by Springer Science & Business Media. This book was released on 2009-11-21 with total page 380 pages. 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.

Laboratory Guide to the Methods in Biochemical Genetics

Author : Nenad Blau
Publisher : Springer Science & Business Media
ISBN 13 : 3540766987
Total Pages : 860 pages
Book Rating : 4.5/5 (47 download)

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Book Synopsis Laboratory Guide to the Methods in Biochemical Genetics by : Nenad Blau

Download or read book Laboratory Guide to the Methods in Biochemical Genetics written by Nenad Blau and published by Springer Science & Business Media. This book was released on 2008-05-31 with total page 860 pages. Available in PDF, EPUB and Kindle. Book excerpt: This manual deals specifically with laboratory approaches to diagnosing inborn errors of metabolism. The key feature is that each chapter is sufficiently detailed so that any individual can adopt the described method into their own respective laboratory.

Inborn Metabolic Diseases

Author : K. Tada
Publisher : Springer Science & Business Media
ISBN 13 : 3662031477
Total Pages : 421 pages
Book Rating : 4.6/5 (62 download)

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Book Synopsis Inborn Metabolic Diseases by : K. Tada

Download or read book Inborn Metabolic Diseases written by K. Tada and published by Springer Science & Business Media. This book was released on 2013-03-14 with total page 421 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Metabolic Diseases

Author : E. Gilbert-Barness
Publisher : IOS Press
ISBN 13 : 1614997187
Total Pages : 960 pages
Book Rating : 4.6/5 (149 download)

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Book Synopsis Metabolic Diseases by : E. Gilbert-Barness

Download or read book Metabolic Diseases written by E. Gilbert-Barness and published by IOS Press. This book was released on 2017-01-06 with total page 960 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Physician’s Guide to the Laboratory Diagnosis of Metabolic Diseases

Author : N. Blau
Publisher : Springer Science & Business Media
ISBN 13 : 364255878X
Total Pages : 732 pages
Book Rating : 4.6/5 (425 download)

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Book Synopsis Physician’s Guide to the Laboratory Diagnosis of Metabolic Diseases by : N. Blau

Download or read book Physician’s Guide to the Laboratory Diagnosis of Metabolic Diseases written by N. Blau and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 732 pages. Available in PDF, EPUB and Kindle. Book excerpt: This second edition of The Physician's Guide provides paediatricians and other physicians with a unique aid to help them select the correct diagnosis from a bewildering array of complex clinical and laboratory data. Delay and mistakes in the diagnosis of inherited metabolic diseases may have devastating consequences. The guide, which includes a CD-ROM, describes 298 disorders which have been grouped into 35 chapters according to the type of condition. Within each group of disorders, chapters provide tables of pertinent clinical findings as well as reference and pathological values for crucial metabolites. Relevant metabolic pathways and diagnostic flow charts are included. There are three indices to make the book as user-friendly as possible.

Nutrition Management of Inherited Metabolic Diseases

Author : Laurie E. Bernstein
Publisher : Springer
ISBN 13 : 3319146211
Total Pages : 363 pages
Book Rating : 4.3/5 (191 download)

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Book Synopsis Nutrition Management of Inherited Metabolic Diseases by : Laurie E. Bernstein

Download or read book Nutrition Management of Inherited Metabolic Diseases written by Laurie E. Bernstein and published by Springer. This book was released on 2015-06-03 with total page 363 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases

Author : Nenad Blau
Publisher : Springer
ISBN 13 : 3642403379
Total Pages : 880 pages
Book Rating : 4.6/5 (424 download)

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Book Synopsis Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases by : Nenad Blau

Download or read book Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases written by Nenad Blau and published by Springer. This book was released on 2014-07-08 with total page 880 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book, combining and updating two previous editions, is a unique source of information on the diagnosis, treatment, and follow-up of metabolic diseases. The clinical and laboratory data characteristic of rare metabolic conditions can be bewildering for both clinicians and laboratory personnel. Reference laboratory data are scattered, and clinical descriptions may be obscure. The Physician’s Guide documents the features of more than five hundred conditions, grouped according to type of disorder, organ system affected (e.g. liver, kidney, etc) or phenotype (e.g. neurological, hepatic, etc). Relevant clinical findings are provided and pathological values for diagnostic metabolites highlighted. Guidance on appropriate biochemical genetic testing is provided. Established experimental therapeutic protocols are described, with recommendations on follow-up and monitoring. The authors are acknowledged experts, and the book will be a valuable desk reference for all who deal with inherited metabolic diseases.

Clinical Paediatric Dietetics

Author : Vanessa Shaw
Publisher : John Wiley & Sons
ISBN 13 : 1119467284
Total Pages : 709 pages
Book Rating : 4.1/5 (194 download)

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Book Synopsis Clinical Paediatric Dietetics by : Vanessa Shaw

Download or read book Clinical Paediatric Dietetics written by Vanessa Shaw and published by John Wiley & Sons. This book was released on 2020-06-24 with total page 709 pages. Available in PDF, EPUB and Kindle. Book excerpt: Clinical Paediatric Dietetics, Fifth Edition continues to provide a very practical approach to dietary management of children with an extensive range of disorders. Thoroughly revised to reflect the most recent scientific and medical literature, this new edition proves to be an indispensable guide for both acute and community-based healthcare professionals. New and expanded content covering a range of disorders, treatments and guidelines has been introduced to the fifth edition, from diabetes technology and the ketogenic diet, to renal tubular disorders, refeeding syndrome, and blended diets in enteral nutrition. This authoritative volume: Supports contemporary evidence-based clinical practice Covers inherited metabolic disorders and diseases of all major organ systems Provides contributions from practising paediatric dietitians, academic research dietitians and a paediatric psychiatrist Includes worked examples, real-world case studies and easy-to-use tables Produced in collaboration with the British Dietetic Association (BDA) and the BDA Paediatric Specialist Group, Clinical Paediatric Dietetics is an invaluable resource for all healthcare practitioners caring for children.

Handbook of hair in health and disease

Author : Victor R. Preedy
Publisher : Springer
ISBN 13 : 9086867286
Total Pages : 477 pages
Book Rating : 4.0/5 (868 download)

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Book Synopsis Handbook of hair in health and disease by : Victor R. Preedy

Download or read book Handbook of hair in health and disease written by Victor R. Preedy and published by Springer. This book was released on 2012-05-23 with total page 477 pages. Available in PDF, EPUB and Kindle. Book excerpt: Hair is a major component of the body's tissue system that contributes to the individual's make up and confers a large degree of personal identity. Apart from its visible façade, hair also has a functional role. It has an unique structure and complex molecular development. The very nature of hair makes it a suitable marker for the prognosis of disease. Hair can also be used to screen for toxins and changes in the diet. However, there are currently no suitable publications available that describe hair in a rational scientific context. This handbook provides an academic approach to hair in health and disease. Divided into five sections the Handbook of Hair in Health and Disease provides an insight into hair growth and loss, molecular and cellular biology of hair, dietary toxicity and pathological history, diseases and treatments of hair, as well as shampoos and conditioners. Unique features of each chapter in this volume include relevant and useful 'Key facts' which highlight interesting or important findings of the specific subjects and 'Summary points' that will give a clear overview of the subjects treated in each chapter. The Handbook of Hair in Health and Disease will be essential to a variety of users, such as trichologists, doctors and nurses and all those interested or working within the area of hair health. This includes nutritionists and dieticians, scientific beauticians, health workers and practitioners, college and university lecturers and undergraduate and graduate students.

Screening of Newborns for Congenital Hypothyroidism

Author : Bradford L. Therrell
Publisher : IAEA
ISBN 13 :
Total Pages : 144 pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis Screening of Newborns for Congenital Hypothyroidism by : Bradford L. Therrell

Download or read book Screening of Newborns for Congenital Hypothyroidism written by Bradford L. Therrell and published by IAEA. This book was released on 2005 with total page 144 pages. Available in PDF, EPUB and Kindle. Book excerpt: Congenital hypothyroidism, when undiagnosed or if there is a lack of proper treatment management, results in an unnecessary health, economic and social burden. Formalized screening programs to detect congenital hypothyroidism in newborn infants, and its timely treatment, can prevent lifelong human suffering caused by severe mental retardation. With the involvement of the IAEA, such screening programs have been introduced successfully in a large number of countries. However, in many other countries such programs have not yet been established. This publication is intended to assist these countries in establishing and sustaining a comprehensive screening system for newborns, and draws on experience gained over more than a decade. It provides information for making sound screening policy decisions and describes how a newborn screening system should be set up, offering guidance on assessing the quality of the system. The intended result is that more successful programs will be established, bringing about a significant improvement in child health care worldwide.--Publisher's description.

Hereditary Tyrosinemia

Author : Robert M. Tanguay
Publisher : Springer
ISBN 13 : 3319557807
Total Pages : 247 pages
Book Rating : 4.3/5 (195 download)

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Book Synopsis Hereditary Tyrosinemia by : Robert M. Tanguay

Download or read book Hereditary Tyrosinemia written by Robert M. Tanguay and published by Springer. This book was released on 2017-07-27 with total page 247 pages. Available in PDF, EPUB and Kindle. Book excerpt: Hereditary tyrosinemia type 1 (HT1), the most severe inborn error of the tyrosine degradation pathway, is due to a deficiency in fumarylacetoacetate hydrolase (FAH). The worldwide frequency of HT1 is one per 100,000 births, but some regions have a significantly higher incidence (1:1,800). The FAH defect results in the accumulation of toxic metabolites, mainly in the liver. If left untreated, HT1 is usually fatal before the age of two. HT1 patients develop several chronic complications including cirrhosis with a high risk of hepatocellular carcinoma (HCC) and neuropsychological impairment. Treatment comprises an inhibitor of the pathway, Nitisinone, a strict dietary treatment or liver transplantation. Early treatment is important to avoid HCC. The book includes the latest developments on the molecular basis of HT1, its pathology, screening and diagnosis and management of the disease written by leading scientists, geneticists, hepatologists and clinicians in the field.

Rare Diseases Epidemiology: Update and Overview

Author : Manuel Posada de la Paz
Publisher : Springer
ISBN 13 : 3319671448
Total Pages : 675 pages
Book Rating : 4.3/5 (196 download)

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Book Synopsis Rare Diseases Epidemiology: Update and Overview by : Manuel Posada de la Paz

Download or read book Rare Diseases Epidemiology: Update and Overview written by Manuel Posada de la Paz and published by Springer. This book was released on 2017-12-06 with total page 675 pages. Available in PDF, EPUB and Kindle. Book excerpt: The fields of rare diseases research and orphan products development continue to expand with more products in research and development status. In recent years, the role of the patient advocacy groups has evolved into a research partner with the academic research community and the bio-pharmaceutical industry. Unique approaches to research and development require epidemiological data not previously available to assist in protocol study design and patient recruitment for clinical trials required by regulatory agencies prior to approval for access by patents and practicing physicians.