Phenylketonuria

Author : Juan M. Pascual
Publisher : Cambridge University Press
ISBN 13 : 1107042054
Total Pages : 507 pages
Book Rating : 4.56/5 ( download)

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Download or read book Progressive Brain Disorders in Childhood written by Juan M. Pascual and published by Cambridge University Press. This book was released on 2017-04-20 with total page 507 pages. 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.

Author : Virginia E. Schuett
Publisher : Univ of Wisconsin Press
ISBN 13 : 9780299153847
Total Pages : 576 pages
Book Rating : 4.43/5 ( download)

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Download or read book Low Protein Cookery for Phenylketonuria written by Virginia E. Schuett and published by Univ of Wisconsin Press. This book was released on 1997 with total page 576 pages. Available in PDF, EPUB and Kindle. Book excerpt: Much more than a cookbook, Low Protein Cookery for Phenylketonuria (PKU) is a practical and easy-to-use guide for those who must maintain a protein-restricted diet for treatment of PKU or similar inherited diseases of protein metabolism. It contains hundreds of helpful suggestions for managing the diet. This third edition of Low Protein Cookery for PKU appears exactly twenty years after the original 1977 publication and includes the 450-plus recipes and the hints from the 1988 second edition that have been used and enjoyed by families for nearly a decade. The major new feature of the third edition is entirely new nutrient calculations. The available food supply has changed significantly in the past fifteen years, and nutrient information is much better now. The nutrient calculations in this edition of the cookbook are based on the updated 1995 Low Protein Food List for PKU compiled by the author, which is the most widely used food list for the PKU diet in the United States. Some of the changes in nutrient values are subtle, others more significant; all reflect the best information currently available. Low Protein Cookery for PKU offers recipes that appeal to a wide range of ages, suit a wide range of individual diet requirements, and facilitate integration of the diet into normal family eating routines. Many of the recipes are suitable for the entire family; others include instructions for adapting the recipe to suit the needs of family members not on the diet, or are accompanied by recipes for the preparation of similar non-diet items. The recipes provide gram weights when appropriate, for greater accuracy in preparing the recipes and in maintaining the diet.

Author : Diane B. Paul
Publisher : JHU Press
ISBN 13 : 1421411318
Total Pages : 316 pages
Book Rating : 4.16/5 ( download)

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Download or read book The PKU Paradox written by Diane B. Paul and published by JHU Press. This book was released on 2013-12 with total page 316 pages. Available in PDF, EPUB and Kindle. Book excerpt: How did a disease of marginal public health significance acquire paradigmatic status in public health and genetics? In a lifetime of practice, most physicians will never encounter a single case of PKU. Yet every physician in the industrialized world learns about the disease in medical school and, since the early 1960s, the newborn heel stick test for PKU has been mandatory in many countries. Diane B. Paul and Jeffrey P. Brosco’s beautifully written book explains this paradox. PKU (phenylketonuria) is a genetic disorder that causes severe cognitive impairment if it is not detected and treated with a strict and difficult diet. Programs to detect PKU and start treatment early are deservedly considered a public health success story. Some have traded on this success to urge expanded newborn screening, defend basic research in genetics, and confront proponents of genetic determinism. In this context, treatment for PKU is typically represented as a simple matter of adhering to a low-phenylalanine diet. In reality, the challenges of living with PKU are daunting. In this first general history of PKU, a historian and a pediatrician explore how a rare genetic disease became the object of an unprecedented system for routine testing. The PKU Paradox is informed by interviews with scientists, clinicians, policymakers, and individuals who live with the disease. The questions it raises touch on ongoing controversies about newborn screening and what happens to blood samples collected at birth.

Author : Suzanne K. W. Mankowitz
Publisher : Springer
ISBN 13 : 3319596802
Total Pages : 628 pages
Book Rating : 4.08/5 ( download)

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Download or read book Consults in Obstetric Anesthesiology written by Suzanne K. W. Mankowitz and published by Springer. This book was released on 2018-11-15 with total page 628 pages. Available in PDF, EPUB and Kindle. Book excerpt: This text addresses the need for a book specifically aimed at obstetric anesthesia and covers topics such as pulmonary, cardiac renal, hepatic, hematologic, neurologic, endocrine and other diseases. The real anesthetic challenge arises when patients present to Labor and Delivery with unusual or complicated medical problems and, in recent years, a few of the larger institutions have developed an Obstetric Anesthesiology Consultation Service to prepare for the management of these patients. While most pregnant women who present to Labor and Delivery require anesthetic intervention, they typically meet the anesthesiologist for the first time in labor. Since the majority of laboring women are healthy without significant comorbidities, this does not present much of a challenge to the anesthesiologist and the anesthetic management tends to be straight-forward with favorable outcomes. However, using this new model, the anesthesiologist has the opportunity to discuss the various treatment modalities and potentially suggest diagnostic testing to be performed prior to delivery, similar to the pre-operative testing that is done in other surgical environments.

Author : Harvey L. Levy
Publisher :
ISBN 13 :
Total Pages : 104 pages
Book Rating : 4.66/5 ( download)

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Download or read book Maternal PKU written by Harvey L. Levy and published by . This book was released on 1982 with total page 104 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Author : Charles R. Scriver
Publisher : New York ; Montreal : McGraw-Hill
ISBN 13 : 9780071363198
Total Pages : 6338 pages
Book Rating : 4.9X/5 ( download)

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Download or read book The Metabolic & Molecular Bases of Inherited Disease written by Charles R. Scriver and published by New York ; Montreal : McGraw-Hill. This book was released on 2001 with total page 6338 pages. Available in PDF, EPUB and Kindle. Book excerpt: Presents clinical, biochemical, and genetic information concerning those metabolic anomalies grouped under inborn errors of metabolism.

Author : Conxi Lázaro
Publisher : Academic Press
ISBN 13 : 0128205202
Total Pages : 436 pages
Book Rating : 4.04/5 ( download)

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Download or read book Clinical DNA Variant Interpretation written by Conxi Lázaro and published by Academic Press. This book was released on 2021-02-27 with total page 436 pages. Available in PDF, EPUB and Kindle. Book excerpt: Clinical DNA Variant Interpretation: Theory and Practice, a new volume in the Translational and Applied Genomics series, covers foundational aspects, modes of analysis, technology, disease and disorder specific case studies, and clinical integration. This book provides a deep theoretical background, as well as applied case studies and methodology, enabling researchers, clinicians and healthcare providers to effectively classify DNA variants associated with disease and patient phenotypes. Practical chapters discuss genomic variant interpretation, terminology and nomenclature, international consensus guidelines, population allele frequency, functional evidence transcripts for RNA, proteins, and enzymes, somatic mutations, somatic profiling, and much more. Compiles best practices, methods and sound evidence for DNA variant classification in one applied volume Features chapter contributions from international leaders in the field Includes practical examples of variant classification for common and rare disorders, and across clinical phenotypes

Author : Uttam Garg
Publisher : Elsevier
ISBN 13 : 0128029188
Total Pages : 476 pages
Book Rating : 4.83/5 ( download)

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Download or read book Biomarkers in Inborn Errors of Metabolism written by Uttam Garg and published by Elsevier. This book was released on 2017-06-07 with total page 476 pages. Available in PDF, EPUB and Kindle. Book excerpt: Biomarkers of Inborn Errors in Metabolism: Clinical Aspects and Laboratory Determination is structured around the new reality that laboratory testing and biomarkers are an integral part in the diagnosis and treatment of inherited metabolic diseases. The book covers currently used biomarkers as well as markers that are in development. Because biomarkers used in the initial diagnosis of disease may be different than the follow-up markers, the book also covers biomarkers used in both the prognosis and treatment of inherited metabolic disorders. With the introduction of expanded new-born screening for inborn metabolic diseases, an increasing numbers of laboratories are involved in follow-up confirmatory testing. The book provides guidance on laboratory test selection and interpreting results in patients with suspected inherited metabolic diseases. The book provides comprehensive guidance on patient diagnosis and follow-up through its illustrative material on metabolic pathways, genetics and pathogenesis, treatment and prognosis of inherited metabolic diseases, along with essential information on clinical presentation. Each chapter is organized with a uniform, easy-to-follow format: a brief description of the disorder and pathway; a description of treatment; biomarkers for diagnosis; biomarkers followed for treatment efficacy; biomarkers followed for disease progression; confounding conditions that can either: affect biomarker expression or mimic IEMs; other biomarkers: less established, future. Provides comprehensive information on the tests/biomarkers selection in newborn screening and follow-up of newborn screens Categorizes biomarkers into diagnostic markers, disease follow-up markers, and prognostic biomarkers Covers confounding factors that can alter biomarkers in the absence of inborn errors of metabolism Offers guidance on how to distinguish acquired causes from inborn errors of metabolism

Author : Laurie E. Bernstein
Publisher : Springer
ISBN 13 : 3319146211
Total Pages : 363 pages
Book Rating : 4.18/5 ( download)

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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.

Author : Laurie Bernstein
Publisher : AuthorHouse
ISBN 13 : 1477272267
Total Pages : 23 pages
Book Rating : 4.68/5 ( download)

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Download or read book Penny The Penguin Has PKU written by Laurie Bernstein and published by AuthorHouse. This book was released on 2012-10 with total page 23 pages. Available in PDF, EPUB and Kindle. Book excerpt: Phenylketonuria (pronounced fee-nill-key-toe-NURR-ee-uh) or PKU is a rare, inherited metabolic disorder. Each year, approximately 1 in 14,000 newborn babies are diagnosed with PKU. If you have PKU, your body cannot break down, or metabolize, the essential amino acid, phenylalanine (Phe). Amino acids are the building blocks of protein. The primary treatment for PKU is a special metabolic formula and the restriction of foods high in Phe (protein), such as meats, cheeses, milk, bread and pasta. Life-long dietary compliance is a critical component for proper growth and development in children and quality of life in adults. We hope Penny The Penguin can help your child on this "diet for life" journey.