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Author : Nenad Blau
Publisher :
ISBN 13 : 9783936145212
Total Pages : 734 pages
Book Rating : 4.1/5 (452 download)
Download or read book PKU and BH4 written by Nenad Blau and published by . This book was released on 2006 with total page 734 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author : Vanessa Shaw
Publisher : John Wiley & Sons
ISBN 13 : 1119467284
Total Pages : 704 pages
Book Rating : 4.1/5 (194 download)
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 704 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.
Author : Suzanne K. W. Mankowitz
Publisher : Springer
ISBN 13 : 3319596802
Total Pages : 628 pages
Book Rating : 4.3/5 (195 download)
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 : Alberto B. Burlina
Publisher :
ISBN 13 : 9783837416015
Total Pages : 136 pages
Book Rating : 4.4/5 (16 download)
Download or read book Phenylketonuria and BH4 Deficiencies written by Alberto B. Burlina and published by . This book was released on 2021-07-31 with total page 136 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 : 4.3/5 (631 download)
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 : Juan M. Pascual
Publisher : Cambridge University Press
ISBN 13 : 1107042054
Total Pages : 507 pages
Book Rating : 4.1/5 (7 download)
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 : Laurie E. Bernstein
Publisher : Springer
ISBN 13 : 3319146211
Total Pages : 363 pages
Book Rating : 4.3/5 (191 download)
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 : Janel L. Wolfe
Publisher :
ISBN 13 :
Total Pages : 72 pages
Book Rating : 4.:/5 (96 download)
Download or read book Efficacy of BH4 Treatment in Individuals with PKU and Its Potential for Decreasing Executive Function Deficits written by Janel L. Wolfe and published by . This book was released on 2014 with total page 72 pages. Available in PDF, EPUB and Kindle. Book excerpt: Problem: Phenylketonuria (PKU) is a genetic disorder in which metabolism of phenylalanine (phe) is altered causing an accumulation of phe in the brain. Left untreated, PKU causes severe and permanent mental retardation. Treatment of PKU is begun immediately after diagnosis and mostly consists of dietary restriction of protein along with consumption of phe-free amino acid mixtures. However, even when treatment is begun early and provided continuously, people with PKU are still known to develop deficits in executive functions. Methods: The search for published articles was conducted using the Weill Cornell Medical College electronic library. PubMed was utilized to search in a number of different journals. Results: A total of 15 articles and 2 websites were utilized for this review. Conclusions: This review specifically looked at dietary treatment, executive functions, and the use of BH4 as an alternative treatment for patients with PKU. BH4 is known to increase phe tolerance and allow for a less strict diet. Dietary treatment alone still leads to the development of executive function deficits in patients with PKU. Studies are still needed to examine the effects of BH4 treatment on the development of executive function deficits and to determine if this would be a better treatment option than dietary restriction alone.
Author : Nenad Blau
Publisher : Springer Science & Business Media
ISBN 13 : 3540766987
Total Pages : 860 pages
Book Rating : 4.5/5 (47 download)
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.
Author : N. Blau
Publisher : Springer Science & Business Media
ISBN 13 : 364255878X
Total Pages : 732 pages
Book Rating : 4.6/5 (425 download)
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.
Author : Nenad Blau
Publisher : Springer
ISBN 13 : 3642403379
Total Pages : 880 pages
Book Rating : 4.6/5 (424 download)
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.
Author : Protasio L. Da Luz
Publisher : Academic Press
ISBN 13 : 0128125519
Total Pages : 760 pages
Book Rating : 4.1/5 (281 download)
Download or read book Endothelium and Cardiovascular Diseases written by Protasio L. Da Luz and published by Academic Press. This book was released on 2018-02-03 with total page 760 pages. Available in PDF, EPUB and Kindle. Book excerpt: Endothelium and Cardiovascular Diseases: Vascular Biology and Clinical Syndromes provides an in-depth examination of the role of endothelium and endothelial dysfunction in normal vascular function, and in a broad spectrum of clinical syndromes, from atherosclerosis, to cognitive disturbances and eclampsia. The endothelium is a major participant in the pathophysiology of diseases, such as atherosclerosis, diabetes and hypertension, and these entities are responsible for the largest part of cardiovascular mortality and morbidly. Over the last decade major new discoveries and concepts involving the endothelium have come to light. This important reference collects this data in an easy to reference resource. Written by known experts, and covering all aspects of endothelial function in health and disease, this reference represents an assembly of recent knowledge that is essential to both basic investigators and clinicians. Provides a complete overview of endothelial function in health and diseases, along with an assessment of new information Includes coverage of groundbreaking areas, including the artificial LDL particle, the development of a new anti-erectile dysfunction agent, a vaccine for atherosclerosis, coronary calcification associated with red wine, and the interplay of endoplasmic reticulum/oxidative stress Explores the genetic features of endothelium and the interaction between basic knowledge and clinical syndromes
Author : Uttam Garg
Publisher : Humana
ISBN 13 : 9781493931811
Total Pages : 0 pages
Book Rating : 4.9/5 (318 download)
Download or read book Clinical Applications of Mass Spectrometry in Biomolecular Analysis written by Uttam Garg and published by Humana. This book was released on 2015-11-25 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume provides stepwise instructions for the analysis of numerous clinically important analytes by mass spectrometry. Mass spectrometry offers clinical laboratory scientists a number of advantages including increased sensitivity and specificity, multiple component analysis, and no need for specialized reagents. The techniques described are a must for the measurement of many clinically relevant analytes in the fields of drug analysis, endocrinology, and inborn errors of metabolism. Each chapter provides a brief introduction about a specified analyte, followed by detailed instructions on the analytical protocol. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Cutting edge and practical, Clinical Applications of Mass Spectrometry in Biomolecular Analysis: Methods and Protocols is a great resource for clinical laboratory scientists who are already using or thinking of bringing mass spectrometry to their laboratories.
Author : Uttam Garg
Publisher : Elsevier
ISBN 13 : 0128029188
Total Pages : 477 pages
Book Rating : 4.1/5 (28 download)
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 477 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 : Harvey S. Singer
Publisher : Academic Press
ISBN 13 : 0124115802
Total Pages : 601 pages
Book Rating : 4.1/5 (241 download)
Download or read book Movement Disorders in Childhood written by Harvey S. Singer and published by Academic Press. This book was released on 2015-10-27 with total page 601 pages. Available in PDF, EPUB and Kindle. Book excerpt: Movement Disorders in Childhood, Second Edition, provides the most up-to-date information on the diseases and disorders that affect motor control, an important area of specialization within child neurology. Over the past several decades, advances in genetics, neuroimaging, neurophysiology, and other areas of neuroscience have provided new understanding of the underlying etiologies and mechanisms of these conditions as well as new opportunities for more accurate diagnosis and effective treatment. This new edition builds upon the success of the first edition, with comprehensive scientific and clinical updates of all chapters. In addition, there are new chapters on hereditary spastic paraplegia, quantitative motor assessments, autoimmune disorders, and movement disorders in the developmental neuropsychiatric disorders ADHD, OCD, and autism. Additional materials are provided on the latest in drug treatments, computer based strategies for genetic diagnosis, and helpful videos for phenomenology. Provides the only current reference specifically focused on childhood movement disorders Investigates the underlying etiologies and mechanisms of these disorders Completely revised and updated with new materials and a more disease-oriented approach New coverage of genetics and movement disorders, immunology and movement disorders, and an introduction to the latest quantitative analysis New videos of instructive and unusual childhood movement disorders 2016 BMA Medical Book Awards Highly Commended in Neurology
Author : Georg F. Hoffmann
Publisher : Springer Science & Business Media
ISBN 13 : 3540747230
Total Pages : 380 pages
Book Rating : 4.5/5 (47 download)
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.
Author : Sheldon Milstien
Publisher : Springer Science & Business Media
ISBN 13 : 1461509459
Total Pages : 632 pages
Book Rating : 4.4/5 (615 download)
Download or read book Chemistry and Biology of Pteridines and Folates written by Sheldon Milstien and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 632 pages. Available in PDF, EPUB and Kindle. Book excerpt: Pteridine and folate research has long been recognized as important for many biological processes, such as amino acid metabolism, nucleic acid synthesis, neurotransmitter synthesis, cancer, cardiovascular function, and growth and development of essentially all living organisms. Defects in synthesis, metabolism and/or nutritional availability of these compounds have been implicated as major causes of common disease processes, e.g. cancer, inflammatory disorders, cardiovascular disorders, neurological diseases, autoimmune processes, and birth defects. Since pteridine and folate biology uses concepts and experimental techniques drawn from all of these disciplines, the breadth of this volume is its great strength, bringing together researchers from a wide variety of fields including biochemistry, chemistry, physics, biophysics, genetics, microbiology, cell and molecular biology, virology, immunology, cancer, neurobiology and medicine. This volume should be a valuable and unique reference work for scientists with interests in these areas as well as those seeking up to date information.
