Inherited Metabolic Disease in Adults

Inherited Metabolic Disease in Adults PDF Author: Carla E. M. Hollak
Publisher: Oxford University Press
ISBN: 0199972133
Category : Medical
Languages : en
Pages : 657

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Book Description
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.

Syndromes: Rapid Recognition and Perioperative Implications

Syndromes: Rapid Recognition and Perioperative Implications PDF Author: Bruno Bissonnette
Publisher: McGraw-Hill Education / Medical
ISBN:
Category : Medical
Languages : en
Pages : 988

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Book Description
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.

Pathology of Heart Disease in the Fetus, Infant and Child

Pathology of Heart Disease in the Fetus, Infant and Child PDF Author: Michael T. Ashworth
Publisher: Cambridge University Press
ISBN: 1107116287
Category : Family & Relationships
Languages : en
Pages : 361

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Book Description
Clearly presents the pathology of heart disease from fetus to adolescence, integrating histology and macroscopy with effects of treatment.

Inborn Disorders of Sphingolipid Metabolism

Inborn Disorders of Sphingolipid Metabolism PDF Author: Stanley M. Aronson
Publisher: Elsevier
ISBN: 1483223582
Category : Health & Fitness
Languages : en
Pages : 530

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Book Description
Inborn Disorders of Sphingolipid Metabolism is a collection of papers presented at the Third International Symposium on the Cerebral Sphingolipidoses and Allied Diseases, held at the Isaac Albert Research Institute of the Jewish Chronic Disease Hospital and at the State University of New York, Downstate Medical Center, on October 25 and 26, 1965. This book is organized into three parts encompassing 35 chapters. Part I deals first with electron microscopic, histochemical, and morphological investigations of certain sphingolipid metabolism disorders. This part also examines several case reports on the features and symptoms of spongy degeneration of the central nervous system, familial leukodystrophy, adrenal insufficiency, and cutaneous melanosis. Part II surveys the metabolism, biosynthesis, and structure of gangliosides and sialic acids. This part also considers the nature of the lipophilic portions of the brain gangliosides. This part particularly looks into the features and clinical manifestation of Tay-Sachs disease. The third part covers the genetic and clinical aspects of the Tay-Sachs disease. This part also evaluates the genetics of the Hurler-Hunter syndrome, Batten-Spielmeyer-Vogt disease, and lipogranulomatosis syndrome. This book is of value to biochemists, histochemists, geneticists, and researchers in the allied fields of lipidosis.

Cellular Pathophysiology

Cellular Pathophysiology PDF Author: Mohammed M. Sayeed
Publisher: CRC Press
ISBN: 9780849340611
Category : Science
Languages : en
Pages : 186

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Book Description
In recent years, there has been increased research on cellular pathophysiology in animal and tissue models simulating human disease processes. The result of this research, which has been carried out primarily by physiologists, pharmacologists, biochemists, anatomists, pathologists, and clinicians, is now presented in this forum. A better understanding of how cellular, subcellular and molecular mechanisms initiate and progressively intensify organic/systemic disease processes is important in the development of rational therapies against these disease processes.

Metabolic Profiling

Metabolic Profiling PDF Author: Martin Grootveld
Publisher: Royal Society of Chemistry
ISBN: 1849735166
Category : Science
Languages : en
Pages : 419

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Book Description
Multivariate analysis of the multi-component analytical profiles of carefully collected biofluid and/or tissue biopsy specimens can provide a 'fingerprint' of their biomolecular/metabolic status. Therefore, if applied correctly, valuable information regarding disease indicators, disease strata and sub-strata and disease activities can be obtained. This exemplary new book highlights applications of these techniques in the areas of drug therapy and toxicology, cancer, obesity and diabetes, as well as outlining applications to cardiovascular, infectious, inflammatory and oral diseases in detail. The book gives particular reference to cautionary measures that must be applied to the diagnosis and classification of these conditions or physiological criteria. Comprehensively covering a wide range of topics, of particular interest is the focus on experimental design and 'rights and wrongs' of the techniques commonly applied by researchers, and the very recent development of powerful 'Pattern Recognition' techniques. The book provides a detailed introduction to the area, applications and common pitfalls of the techniques discussed before moving into detailed coverage of specific disease areas, each highlighted in individual chapters. This title will provide an invaluable resource to Medicinal chemists, Biochemists and toxicologists working in industry and academia.

Hurwitz Clinical Pediatric Dermatology

Hurwitz Clinical Pediatric Dermatology PDF Author: Amy Paller
Publisher: Saunders
ISBN:
Category : Medical
Languages : en
Pages : 756

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Book Description
This thoroughly updated text covers the full range of pediatric diseases, with special emphasis on management and which methods work best. Maintains the steadfast tradition of Sid Hurwitz.s ground-breaking work.

Neuromuscular Imaging

Neuromuscular Imaging PDF Author: Mike P. Wattjes
Publisher: Springer Science & Business Media
ISBN: 1461465524
Category : Medical
Languages : en
Pages : 432

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Book Description
Neuromuscular imaging has increasingly become an important tool in the detection and diagnosis of inherited and acquired neuromuscular disease. This book is a groundbreaking radiological and neurological overview of current methods and applications of imaging—including aspects of neuroimaging and musculoskeletal imaging—in patients with inherited, metabolic, and inflammatory muscle diseases. Imaging features are discussed in the context of clincial presentation, histopathology, therapeutic options and differential diagnosis. World leading expert contributors give a comprehensive and didactic review of neuromuscular disorders and available imaging modalities, each illustrated with numerous figures. Topics discussed include: -Modalities such as ultrasound, CT and MRI -Muscle anatomy and physiology -Clinical applications in hereditary and acquired myopathies -Clinical applications in motor neuron disorders and peripheral nerve imaging

Sweet Biochemistry

Sweet Biochemistry PDF Author: Asha Kumari
Publisher: Elsevier
ISBN: 0443153493
Category : Science
Languages : en
Pages : 243

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Book Description
Sweet Biochemistry: Remembering Structures, Cycles, and Pathways by Mnemonics, Second Edition makes biochemistry lively, interesting and memorable by connecting objects, images and stories to biochemistry concepts. Here, Dr. Asha Kumari has converted cycles and difficult pathways into very simple formula and short stories and images to help readers see things in complicated cycles and better visualize biochemistry. As biochemistry is evolving steadily, with new and impactful topics, this new edition has been fully updated to include mnemonics on timely topics in biochemistry such as DNA replication, RNA, transcription, translation, and CRISPR technology, as well as fundamentals of immunity. - Provides quick, indigenous formula, mnemonics, figures, poems and short stories to absorb key concepts in biochemistry - Presents original diagrams that are easy to recall - Features simplified tables for remembering distinguishing features - Updated to address evolving topics in basic and medical biochemistry, including DNA replication, RNA transcription and translation and immunity fundamentals

Aminoff's Neurology and General Medicine

Aminoff's Neurology and General Medicine PDF Author: Michael J. Aminoff
Publisher: Elsevier
ISBN: 0124077382
Category : Medical
Languages : en
Pages : 1393

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Book Description
Aminoff's Neurology and General Medicine is the standard and classic reference providing comprehensive coverage of the relationship between neurologic practice and general medicine. As neurologists are asked to consult on general medical conditions, this reference provides an authoritative tool linking general medical conditions to specific neurologic issues and disorders. This is also a valuable tool for the general practitioner seeking to understand the neurologic aspects of their medical practice. Completely revised with new chapters covering metastatic disease, bladder disease, psychogenic disorders, dementia, and pre-operative and post-operative care of patients with neurologic disorders, this new edition will again be the go-to reference for both neurologists and general practitioners. - The standard authoritative reference detailing the relationship between neurology and general medicine - 100% revised and updated with several new chapters - Well illustrated, with most illustrations in full color

Placental and Gestational Pathology with Online Resource

Placental and Gestational Pathology with Online Resource PDF Author: Raymond W. Redline
Publisher: Cambridge University Press
ISBN: 1316632539
Category : Medical
Languages : en
Pages : 367

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Book Description
A guide to identifying disease processes in the placenta affecting pregnancy outcome, with current diagnostic criteria and clinical consequences.