Author: Bruno Bissonnette
Publisher: McGraw-Hill Education / Medical
ISBN:
Category : Medical
Languages : en
Pages : 988
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.
Inherited Metabolic Disease in Adults
Author: Carla E. M. Hollak
Publisher: Oxford University Press
ISBN: 0199972133
Category : Medical
Languages : en
Pages : 657
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.
Publisher: Oxford University Press
ISBN: 0199972133
Category : Medical
Languages : en
Pages : 657
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
Author: Bruno Bissonnette
Publisher: McGraw-Hill Education / Medical
ISBN:
Category : Medical
Languages : en
Pages : 988
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.
Publisher: McGraw-Hill Education / Medical
ISBN:
Category : Medical
Languages : en
Pages : 988
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.
Inborn Disorders of Sphingolipid Metabolism
Author: Stanley M. Aronson
Publisher: Elsevier
ISBN: 1483223582
Category : Health & Fitness
Languages : en
Pages : 530
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.
Publisher: Elsevier
ISBN: 1483223582
Category : Health & Fitness
Languages : en
Pages : 530
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.
Pathology of Heart Disease in the Fetus, Infant and Child
Author: Michael T. Ashworth
Publisher: Cambridge University Press
ISBN: 1107116287
Category : Family & Relationships
Languages : en
Pages : 361
Book Description
Clearly presents the pathology of heart disease from fetus to adolescence, integrating histology and macroscopy with effects of treatment.
Publisher: Cambridge University Press
ISBN: 1107116287
Category : Family & Relationships
Languages : en
Pages : 361
Book Description
Clearly presents the pathology of heart disease from fetus to adolescence, integrating histology and macroscopy with effects of treatment.
Cellular Pathophysiology
Author: Mohammed M. Sayeed
Publisher: CRC Press
ISBN: 9780849340611
Category : Science
Languages : en
Pages : 186
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.
Publisher: CRC Press
ISBN: 9780849340611
Category : Science
Languages : en
Pages : 186
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.
Genetic Neuromuscular Disorders
Author: Corrado Angelini
Publisher: Springer
ISBN: 3319564544
Category : Medical
Languages : en
Pages : 392
Book Description
This updated and expanded new edition of a successful book describes genetic diagnostic entities of neuromuscular disorders. Neuromuscular syndromes are presented clinically either as a case study or as an overview from the literature, accompanied by text presenting molecular defects, and differential diagnosis. This collection of neuromuscular disorders features the differential clinical phenotypes related to each genotype and are representative of the whole spectrum of a genetic muscle disorder, helping the clinician and neuromuscular physician to make a diagnosis. Key points for each genetic disease are identified to suggest treatment, when available, or the main clinical exams useful in follow-up of patients. Genetic Neuromuscular Disorders: A Case-Based Approach is aimed at neuromuscular physicians and neurology residents.
Publisher: Springer
ISBN: 3319564544
Category : Medical
Languages : en
Pages : 392
Book Description
This updated and expanded new edition of a successful book describes genetic diagnostic entities of neuromuscular disorders. Neuromuscular syndromes are presented clinically either as a case study or as an overview from the literature, accompanied by text presenting molecular defects, and differential diagnosis. This collection of neuromuscular disorders features the differential clinical phenotypes related to each genotype and are representative of the whole spectrum of a genetic muscle disorder, helping the clinician and neuromuscular physician to make a diagnosis. Key points for each genetic disease are identified to suggest treatment, when available, or the main clinical exams useful in follow-up of patients. Genetic Neuromuscular Disorders: A Case-Based Approach is aimed at neuromuscular physicians and neurology residents.
Placental and Gestational Pathology with Online Resource
Author: Raymond W. Redline
Publisher: Cambridge University Press
ISBN: 1316632539
Category : Medical
Languages : en
Pages : 367
Book Description
A guide to identifying disease processes in the placenta affecting pregnancy outcome, with current diagnostic criteria and clinical consequences.
Publisher: Cambridge University Press
ISBN: 1316632539
Category : Medical
Languages : en
Pages : 367
Book Description
A guide to identifying disease processes in the placenta affecting pregnancy outcome, with current diagnostic criteria and clinical consequences.
Hurwitz Clinical Pediatric Dermatology
Author: Amy Paller
Publisher: Saunders
ISBN:
Category : Medical
Languages : en
Pages : 756
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.
Publisher: Saunders
ISBN:
Category : Medical
Languages : en
Pages : 756
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.
Atlas of Metabolic Diseases Second edition
Author: William Nyhan
Publisher: CRC Press
ISBN: 144411459X
Category : Medical
Languages : en
Pages : 801
Book Description
In a field where even experts may find that years have elapsed since they last encountered a child with a given disorder, it is essential for the clinician to have a comprehensive source of practical and highly illustrated information covering the whole spectrum of metabolic disease to refer to. The second edition of this highly regarded book, auth
Publisher: CRC Press
ISBN: 144411459X
Category : Medical
Languages : en
Pages : 801
Book Description
In a field where even experts may find that years have elapsed since they last encountered a child with a given disorder, it is essential for the clinician to have a comprehensive source of practical and highly illustrated information covering the whole spectrum of metabolic disease to refer to. The second edition of this highly regarded book, auth
Neuromuscular Imaging
Author: Mike P. Wattjes
Publisher: Springer Science & Business Media
ISBN: 1461465524
Category : Medical
Languages : en
Pages : 432
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
Publisher: Springer Science & Business Media
ISBN: 1461465524
Category : Medical
Languages : en
Pages : 432
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