Fabry Disease

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Fabry Disease

Deborah Elstein,Gheona Altarescu,Michael Beck
Fabry Disease Book PDF

Author : Deborah Elstein,Gheona Altarescu,Michael Beck
Publisher : Springer Science & Business Media
Page : 525 pages
File Size : 53,9 Mb
Release : 2010-08-02
Category : Medical
ISBN : 9789048190331

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Fabry Disease by Deborah Elstein,Gheona Altarescu,Michael Beck Pdf

Fabry disease is an X-linked inborn error of metabolism wherein deficiency of a lysosomal enzyme results in systemic deposition of glycosphingolipids. Storage deposition, and hence pathological disease, occurs preferentially in renal glomerular and tubular epithelial cells, myocardial cells, heart valve fibrocytes, neurons of dorsal root ganglia, and in endothelial smooth muscle cells of blood vessels. Thus, Fabry disease is a multi-system disorder, albeit with considerable phenotypic heterogeneity in onset and in severity; however, it is progressive, exhibits extensive morbidity, and is life-threatening. Within the past two decades, there has been a radical change in the natural course Fabry disease by virtue of the availability of specific enzyme replacement therapy. Moreover, there has been a concerted effort to better understand the underlying pathology and equally to identify patients prior to the onset of irreversible end-organ damage. It is to be hoped that the future for patients with Fabry disease can be viewed with greater, albeit guarded, optimism. This state-of-the-art textbook attempts to bridge the span of pre-clinical studies, clinical finding, and management options in a readable but comprehensive manner for the medical practitioner as well as the interested non-medical reader.

Joe Learns about Fabry Disease

Dawn Laney
Joe Learns about Fabry Disease Book PDF

Author : Dawn Laney
Publisher : Unknown
Page : 0 pages
File Size : 47,5 Mb
Release : 2009-09-06
Category : Chronically ill children
ISBN : 1439245843

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Joe Learns about Fabry Disease by Dawn Laney Pdf

Joe's story was developed to help explain Fabry disease and its treatment from the perspective of a ten year old.

The Metabolic & Molecular Bases of Inherited Disease

Charles R. Scriver
The Metabolic Molecular Bases of Inherited Disease Book PDF

Author : Charles R. Scriver
Publisher : New York ; Montreal : McGraw-Hill
Page : 6338 pages
File Size : 51,5 Mb
Release : 2001
Category : Genetic disorders
ISBN : 007136319X

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The Metabolic & Molecular Bases of Inherited Disease by Charles R. Scriver Pdf

Presents clinical, biochemical, and genetic information concerning those metabolic anomalies grouped under inborn errors of metabolism.

Oxford Textbook of Clinical Nephrology

Neil N. Turner,Norbert Lameire,David J. Goldsmith,Christopher G. Winearls,Jonathan Himmelfarb,Giuseppe Remuzzi
Oxford Textbook of Clinical Nephrology Book PDF

Author : Neil N. Turner,Norbert Lameire,David J. Goldsmith,Christopher G. Winearls,Jonathan Himmelfarb,Giuseppe Remuzzi
Publisher : Oxford University Press
Page : 3045 pages
File Size : 42,6 Mb
Release : 2015-10-29
Category : Medical
ISBN : 9780191017650

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Oxford Textbook of Clinical Nephrology by Neil N. Turner,Norbert Lameire,David J. Goldsmith,Christopher G. Winearls,Jonathan Himmelfarb,Giuseppe Remuzzi Pdf

This fourth edition of the Oxford Textbook of Clinical Nephrology builds on the success and international reputation of the publication as an important resource for the practising clinician in the field. It provides practical, scholarly, and evidence-based coverage of the full spectrum of clinical nephrology, written by a global faculty of experts. The most relevant and important reference to clinical nephrology, this is an authoritative and comprehensive textbook combining the clinical aspects of renal disease essential to daily clinical practice with extensive information about the underlying basic science and current evidence available. Each section of the textbook has been critically and comprehensively edited under the auspices of a leading expert in the field. This new edition has been significantly expanded and reapportioned to reflect developments and new approaches to topics, and includes treatment algorithms to aid and enhance patient care where possible. The fourth edition offers increased focus on the medical aspects of transplantation, HIV-associated renal disease, and infection and renal disease, alongside entirely new sections on genetic topics and clinical and physiological aspects of fluid/electrolyte and tubular disorders. The emphasis throughout is on marrying advances in scientific research with clinical management. Richly illustrated throughout in full colour, this is a truly modern and attractive edition which reinforces the Oxford Textbook of Clinical Nephrology's position as an indispensable reference work of consistent quality and reliability. Enriched and refined by careful revision, this new edition continues the tradition of excellence. This print edition of The Oxford Textbook of Clinical Nephrology comes with a year's access to the online version on Oxford Medicine Online. By activating your unique access code, you can read and annotate the full text online, follow links from the references to primary research materials, and view, enlarge and download all the figures and tables. Oxford Medicine Online is mobile optimized for access when and where you need it.

Progressive Brain Disorders in Childhood

Juan M. Pascual
Progressive Brain Disorders in Childhood Book PDF

Author : Juan M. Pascual
Publisher : Cambridge University Press
Page : 507 pages
File Size : 47,9 Mb
Release : 2017-04-20
Category : Medical
ISBN : 9781107042056

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Progressive Brain Disorders in Childhood by Juan M. Pascual Pdf

A review of childhood neurodegenerative and other progressive but non-degenerative disorders to guide their diagnosis and management.

Uncommon Causes of Stroke

Julien Bogousslavsky,Louis R. Caplan
Uncommon Causes of Stroke Book PDF

Author : Julien Bogousslavsky,Louis R. Caplan
Publisher : Cambridge University Press
Page : 418 pages
File Size : 41,8 Mb
Release : 2001-05-24
Category : Medical
ISBN : 0521771455

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Uncommon Causes of Stroke by Julien Bogousslavsky,Louis R. Caplan Pdf

An essential resource for diagnosis and treatment of stroke patients outside the usual clinical categories.

Inherited Metabolic Disease in Adults

Carla E. M. Hollak,Robin Lachmann
Inherited Metabolic Disease in Adults Book PDF

Author : Carla E. M. Hollak,Robin Lachmann
Publisher : Oxford University Press
Page : 657 pages
File Size : 40,7 Mb
Release : 2016
Category : Medical
ISBN : 9780199972135

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Inherited Metabolic Disease in Adults by Carla E. M. Hollak,Robin Lachmann Pdf

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.

Neurocutaneous Disorders

Christos P. Panteliadis,Christian Hagel,Ramsis Benjamin
Neurocutaneous Disorders Book PDF

Author : Christos P. Panteliadis,Christian Hagel,Ramsis Benjamin
Publisher : "Elsevier,Urban&FischerVerlag"
Page : 314 pages
File Size : 40,9 Mb
Release : 2016-01-14
Category : Medical
ISBN : 9783437171178

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Neurocutaneous Disorders by Christos P. Panteliadis,Christian Hagel,Ramsis Benjamin Pdf

Neurocutaneous syndromes and hemangiomas encompass a substantial proportion of congenital or hereditary disorders, and present themselves through variable clinical features. Though often complex and multi-systemic, these disorders can mostly be diagnosed by simple visual inspections and strong clinical expertise. The purpose of this book is to compile in a single volume a comprehensive review of the historical perspective, the clinical features, the current knowledge concerning the pathogenesis, and the diagnostic and therapeutic strategies associated with these challenging disorders. Strong emphasis throughout is given on the biochemical, molecular, and genetic basis of these syndromes. The international editorial team have drawn upon contributions from colleagues, and from fully referenced information from thousands of articles, thus providing the reader with an outstanding up-to-date resource for the diagnosis and treatment of neurocutaneous disorders.

Human Pathobiochemistry

Toshitaka Oohashi,Hirokazu Tsukahara,Francesco Ramirez,Chad L. Barber,Fumio Otsuka
Human Pathobiochemistry Book PDF

Author : Toshitaka Oohashi,Hirokazu Tsukahara,Francesco Ramirez,Chad L. Barber,Fumio Otsuka
Publisher : Springer
Page : 349 pages
File Size : 53,5 Mb
Release : 2019-03-13
Category : Medical
ISBN : 9789811329777

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Human Pathobiochemistry by Toshitaka Oohashi,Hirokazu Tsukahara,Francesco Ramirez,Chad L. Barber,Fumio Otsuka Pdf

This textbook uses a case-study approach to present the core principles of biochemistry and molecular biology in the context of human disease to students who will be involved in patient care. The 29 clinical cases have been carefully selected to cover key scientific concepts and some common, and other not so common, diseases. While the principal focus is on topics relating to metabolic disease, further subjects such as connective tissue disorders, neurological disorders, auto-inflammatory disorders, infective diseases, and cancer are also addressed. Each chapter provides a specific patient report that includes the natural history, pertinent clinical laboratory data, physical findings, subsequent diagnosis, and therapy. This is followed by a comprehensive discussion of the normal biochemical processes and reactions pertaining to the case, along with the pathophysiological mechanisms of the disease. Graphical diagrams are provided in each chapter for ease of comprehension.

Metabolic Cardiomyopathy

H. Böhles,A. C. Sewell
Metabolic Cardiomyopathy Book PDF

Author : H. Böhles,A. C. Sewell
Publisher : CRC Press
Page : 188 pages
File Size : 53,6 Mb
Release : 2004
Category : Cardiomyopathy
ISBN : 3887631048

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Metabolic Cardiomyopathy by H. Böhles,A. C. Sewell Pdf

During the last years the understanding for the aetiology of cardiomyopathies could be greatly improved. A great deal of information has accumulated in the field of inherited metabolic diseases, which provides a new basis for our understanding of many heart muscle problems and their corresponding clinical disease entities. This book is meant to give the reader a comprehensive overview of the cardiological manifestations of inborn errors of metabolism. Latest information, such as cardiomyopathy in Fabry disease or in patients with CDG-syndrome is included. It should be helpful, not only to cardiologists, paediatricians, internists and general practicioners, but also to all those interested in a better understanding of the metabolic basis of clinical disease entities.

Skin and the Heart

Carmen Salavastru,Dedee F. Murrell,James Otton
Skin and the Heart Book PDF

Author : Carmen Salavastru,Dedee F. Murrell,James Otton
Publisher : Springer Nature
Page : 494 pages
File Size : 44,8 Mb
Release : 2021-03-10
Category : Medical
ISBN : 9783030547790

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Skin and the Heart by Carmen Salavastru,Dedee F. Murrell,James Otton Pdf

This book describes the relationship of the skin with cardiovascular disease. It details the variety of genetic, autoimmune, metabolic and endocrine factors that link the two disciplines. Recognition of one sign or symptom in dermatology can lead to the investigation and discovery of an important related cardiac condition, the recognition of which is important to prevent cardiovascular complications. Similarly, a cardiac condition may be related to an underlying skin condition that requires treatment. Genetic examples of such instances included within the book include: pseudoxanthoma elasticum, epidermolysis bullosa with desmosome defects and plectin defects; Marfan syndrome; Autoimmune conditions include vasculitis, sarcoidosis, lupus; metabolic conditions include insulin resistance, eruptive xanthomas with hypertriglyceridemias and elevated cholesterol; endocrine disorders include thyroid acropachy with atrial fibrillation; insulin resistance with coronary artery disease and psoriasis or hidradenitis suppurativa. Skin and the Heart reviews the effects of genetic, autoimmune and endocrine diseases with connections between skin and heart. It is therefore a key reference for all practitioners and researchers working in both disciplines.

Drug Metabolism, Pharmacokinetics and Bioanalysis

Hye Suk Lee,Kwang-Hyeon Liu
Drug Metabolism Pharmacokinetics and Bioanalysis Book PDF

Author : Hye Suk Lee,Kwang-Hyeon Liu
Publisher : MDPI
Page : 230 pages
File Size : 53,6 Mb
Release : 2019-06-12
Category : Medical
ISBN : 9783038979166

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Drug Metabolism, Pharmacokinetics and Bioanalysis by Hye Suk Lee,Kwang-Hyeon Liu Pdf

Drug metabolism/pharmacokinetics and drug interaction studies have been extensively carried out in order to secure the druggability and safety of new chemical entities throughout the development of new drugs. Recently, drug metabolism and transport by phase II drug metabolizing enzymes and drug transporters, respectively, as well as phase I drug metabolizing enzymes, have been studied. A combination of biochemical advances in the function and regulation of drug metabolizing enzymes and automated analytical technologies are revolutionizing drug metabolism research. There are also potential drug–drug interactions with co-administered drugs due to inhibition and/or induction of drug metabolic enzymes and drug transporters. In addition, drug interaction studies have been actively performed to develop substrate cocktails that do not interfere with each other and a simultaneous analytical method of substrate drugs and their metabolites using a tandem mass spectrometer. This Special Issue has the aim of highlighting current progress in drug metabolism/pharmacokinetics, drug interactions, and bioanalysis.

Metabolic Diseases

E. Gilbert-Barness,L.A. Barness,P.M. Farrell
Metabolic Diseases Book PDF

Author : E. Gilbert-Barness,L.A. Barness,P.M. Farrell
Publisher : IOS Press
Page : 960 pages
File Size : 46,5 Mb
Release : 2017-01-06
Category : MEDICAL
ISBN : 9781614997184

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Metabolic Diseases by E. Gilbert-Barness,L.A. Barness,P.M. Farrell Pdf

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.

Emergency Neuro-ophthalmology

An-Guor Wang
Emergency Neuro ophthalmology Book PDF

Author : An-Guor Wang
Publisher : Springer
Page : 336 pages
File Size : 48,7 Mb
Release : 2018-06-22
Category : Medical
ISBN : 9789811076688

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Emergency Neuro-ophthalmology by An-Guor Wang Pdf

This book presents 57 typical cases of neuro-ophthalmic diseases in the emergency room, which represent notoriously complex and difficult challenges for junior doctors. The physical manifestations of these neurologic disorders include visual loss, transient blurring, diplopia, headache, pupillary abnormality, and even cognition problems. Each case provides a wealth of information, including the case report, comments, diagnosis, management, prognosis and concise notes, as well as photographs and other images. As a case-based clinical reference work on neuro-ophthalmic diseases, the book offers readers essential, concretely applicable information and guidance.

Inborn Disorders of Sphingolipid Metabolism

Stanley M. Aronson,Bruno W. Volk
Inborn Disorders of Sphingolipid Metabolism Book PDF

Author : Stanley M. Aronson,Bruno W. Volk
Publisher : Elsevier
Page : 530 pages
File Size : 52,5 Mb
Release : 2017-01-31
Category : Health & Fitness
ISBN : 9781483223582

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Inborn Disorders of Sphingolipid Metabolism by Stanley M. Aronson,Bruno W. Volk Pdf

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.