Inborn

Author : Thomas Enger
Publisher : Orenda Books
Page : 372 pages
File Size : 41,5 Mb
Release : 2019-01-25
Category : Fiction
ISBN : 9781495655036

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Inborn by Thomas Enger Pdf

When a double murder takes place in a Norwegian village high school, a teenager finds himself subject to trial by social media ... and in the dock. Bestselling, highly emotive and award-winning Nordic Noir... 'One of the finest writers of the Nordic Noir genre' Ragnar Jnasson 'Satisfyingly tense and dark' Sunday Times 'Spine-chilling and utterly unputdownable' Yrsa SigurardttirBRBRBRBRWhat turns a boy into a killer?/BBRBRWhen the high school in the small Norwegian village of Fredheim becomes a murder scene, the finger is soon pointed at seventeen-year-old Even. As the investigation closes in, social media is ablaze with accusations, rumours and even threats, and Even finds himself the subject of an online trial as well as being in the dock ... for murder?BRBREven pores over his memories of the months leading up to the crime, and it becomes clear that more than one villager was acting suspiciously ... and secrets are simmering beneath the calm surface of this close-knit community. As events from the past play tag with the present, he's forced to question everything he thought he knew. Was the death of his father in a car crash a decade earlier really accidental? Has a relationship stirred up something that someone is prepared to kill to protect?BRBRIt seems that there may be no one that Even can trust. But can we trust him?BRBRA taut, moving and chilling thriller, IInborn You loved Quicksand and We Need to Talk about Kevin, now read Inborn 'A pithy, twisty, challenging tale with a cracking concept ... The ending caught in my throat, piercing, then shattering my crime-sleuthing thoughts. Inborn is so very readable, it also provoked and sliced at my feelings, made me stop, made me think, it really is very clever indeed' LoveReading 'If you like your crime smart, dark and morally compelling then you'll absolutely love this book' 17 Degrees Magazine 'Clever plotting and thought-provoking premise. Another feather in Thomas Enger's cap' Crime by the Book 'Thomas Enger's novels are intelligent and emotionally aware and Inborn is no exception ... an exciting and thought-provoking novel' New Books Magazine 'One of the most unusual and intense talents in the field' Barry Forshaw, Independent 'MUST HAVE' Sunday Express S Magazine 'Intriguing' Guardian 'Sophisticated and suspenseful' Literary Review 'Full of suspense and heart' Crime Monthly 'Inborn is a small-town murder mystery and courtroom drama with multi-faceted characters and compelling twists that will keep you guessing until the very end' Culture Fly 'A tightly plotted mix of thrillers and courtroom drama ... compelling, twisty and full of emotion' Off-the-Shelf Books

Author : John Fernandes,Jean-Marie Saudubray,Georges van den Berghe,John H. Walter
Publisher : Springer Science & Business Media
Page : 548 pages
File Size : 46,7 Mb
Release : 2006-11-22
Category : Medical
ISBN : 9783540287858

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Inborn Metabolic Diseases by John Fernandes,Jean-Marie Saudubray,Georges van den Berghe,John H. Walter Pdf

This classical textbook has become indispensable for those in the front line dealing with metabolic disorders. The book is aimed at all those involved with this specialty including pediatricians, biochemists, dieticians, neurologists, internists, geneticists, psychologists, nurses, and social workers. This 4th edition has been thoroughly updated and revised. One new chapter on Neonatal screening by tandem MS/MS has been added and several new groups of disorders have been included. The book’s main feature is the strong emphasis on clinical presentation and treatment in acute and chronic situation.

Author : Charles J. Epstein,Robert P. Erickson,Anthony Joseph Wynshaw-Boris
Publisher : Oxford University Press, USA
Page : 1110 pages
File Size : 44,7 Mb
Release : 2004
Category : Medical
ISBN : 9780195145021

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Inborn Errors of Development by Charles J. Epstein,Robert P. Erickson,Anthony Joseph Wynshaw-Boris Pdf

In this book, the clinical chapters are organized into sections by defined developmental pathways or gene families, and each section is preceded by a general overview. For each disorder the authors cover the disease-causing genes, the role of these genes in development as elucidated in model organisms, the human mutations that have been identified, and the developmental pathogenesis of the condition. Clinical descriptions, along with discussions of therapy and counseling, are provided. This book will be an invaluable resource for physicians, dentists, and other health professionals and for basic scientists interested in developmental processes and genetic perturbations that affect them.

Author : Brendan Lee,Fernando Scaglia
Publisher : Oxford Monographs on Medical G
Page : 393 pages
File Size : 54,7 Mb
Release : 2014-10-13
Category : Medical
ISBN : 9780199797585

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Inborn Errors of Metabolism by Brendan Lee,Fernando Scaglia Pdf

This volume is an expansion on the known treatment model of IEMs, one that establishes an innovative pathway approach and provides a new authority on this family of disease. Alongside the standard cadre of molecular and clinical underpinnings, this book includes coverage of newborn screening and an overarching treatment of IEMs as complex diseases.

Author : Charlotte Kenton
Publisher : Unknown
Page : 36 pages
File Size : 42,7 Mb
Release : 1980
Category : Diseases
ISBN : MINN:31951002869976Z

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Inborn Errors of Metabolism in Animals by Charlotte Kenton Pdf

Author : Jean-Marie Saudubray,Matthias R. Baumgartner,Ángeles García-Cazorla,John Walter
Publisher : Springer Nature
Page : 906 pages
File Size : 50,7 Mb
Release : 2022-06-24
Category : Medical
ISBN : 9783662631232

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Inborn Metabolic Diseases by Jean-Marie Saudubray,Matthias R. Baumgartner,Ángeles García-Cazorla,John Walter Pdf

This 7th edition is a milestone in the series of Inborn Metabolic Diseases (IMD), recognised as the standard textbook for professionals involved in the diagnosis and management of IMD. Within the last 5 years a Copernican revolution in our understanding of IMD has changed the definition, concepts, paradigms, and classification. This new edition now extends the concept of IMD to include those disturbances in molecular machinery diagnosed by molecular techniques but currently without measurable metabolic markers. The book presents a clinical and biochemical approach to the diagnosis and management of IEM with many diagnostic algorithms for patients of all ages and with a particular focus on neurological presentations. It includes separate, comprehensive sections on IEM classified in 3 major pathophysiological categories: disorders of energy metabolism, both mitochondrial and non-mitochondrial; small molecule disorders, mostly diagnosed with metabolic markers; and complex molecules disorders, mostly diagnosed with molecular techniques. Two new chapters were added, describing around 600 disorders of nucleic acid metabolism, tRNA metabolism, ribosomal biogenesis, and cellular trafficking.

Author : Christine M. Houser
Publisher : Springer Science & Business Media
Page : 156 pages
File Size : 52,9 Mb
Release : 2014-04-12
Category : Medical
ISBN : 9781493905812

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Pediatric Genetics and Inborn Errors of Metabolism by Christine M. Houser Pdf

Often, information in review books can raise as many questions as it answers. This interferes with the study process, because the learner must either look up additional information or skip ahead without truly comprehending what he or she has read. As an alternative, Pediatric Genetics and Inborn Errors of Metabolism: A Practically Painless Review presents bite-size chunks of information that can be read and processed rapidly, helping learners to stay active while studying and to pick up new information the first time they read it. This book's question and answer format allows for self-testing or study with a partner or a group. The format also facilitates dipping into the book during a few minutes of downtime at the hospital or office. Pediatric Genetics and Inborn Errors of Metabolism: A Practically Painless Review is a quick and easy way to master these tricky topics and is suitable for those studying for the pediatric board exam, practicing physicians brushing up their skills and any busy clinician who wants to learn more about these topics while on the go.

Author : K. Tada,N.R.M. Buist,John Fernandes,Jean-Marie Saudubray,Georges van den Berghe
Publisher : Springer Science & Business Media
Page : 421 pages
File Size : 45,8 Mb
Release : 2013-03-14
Category : Medical
ISBN : 9783662031476

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Inborn Metabolic Diseases by K. Tada,N.R.M. Buist,John Fernandes,Jean-Marie Saudubray,Georges van den Berghe Pdf

Each disease-related chapter begins with a detailed description of the patient and the delineating symptoms used for establishing the diagnosis and differential diagnosis. The highly detailed figures illustrate the metabolic derangement in a uniform way, together with essential aspects of the genetics involved, thus affording clarification and better understanding of the treatment. Topics covered range from general aspects such as the clinical approach, emergency treatment, diagnostic procedures, and psychosocial care for the child and the family, to specific discussions of new modes of treatment, including liver, bone marrow transplantation and somatic gene therapy.

Author : F. Güttler,J.W.T. Seakins,R. Angus Harkness
Publisher : Springer Science & Business Media
Page : 394 pages
File Size : 42,6 Mb
Release : 2012-12-06
Category : Medical
ISBN : 9789401161978

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Inborn Errors of Immunity and Phagocytosis by F. Güttler,J.W.T. Seakins,R. Angus Harkness Pdf

The rapid growth of immunology has greatly increased our understanding of disease; this growth has also generated a subject which at times appears separated from some of the basic medical sciences. Recent studies in the areas of purine metabolism and of polymorphonuclear neutrophil phago cyte function have, however, linked immunology and clinical medicine with biochemistry. The precise defects of the inborn errors of metabolism have now provided good evidence for the importance of purine metabolism specifically the enzymes adenosine deaminase and nucleoside phosphorylase in lymphocyte function. In view of this and the steady advance of clinical and biochemical investigation of the polymorphonuclear neutrophil phago cyte, it appeared timely to review the inborn errors of immunity and phagocytosis at the fifteenth annual symposium of the Society for the Study of Inborn Errors of Metabolism at Elsinore, Denmark on September II-14th, I~77. The papers presented at that meeting form the basis of this volume which brings together contributions from immunologists, biochemists and clinicians. This interdisciplinary communication should be helpful to those concerned with immune function in their patients or in the laboratory. The book is divided into four sections, One: defects of cell-mediated immunity, Two: enzyme defects and immunodeficiency, Three: disorders of non-specific immunity and Four: screening for immunodeficiency. Section One contains two reviews, one on immunodeficiency from Robert Good's group in New York and another on the genetics of the immune system from Arne Svejgaard of Copenhagen.

Author : Asghar Aghamohammadi,Hassan Abolhassani,Nima Rezaei,Reza Yazdani
Publisher : Academic Press
Page : 396 pages
File Size : 48,6 Mb
Release : 2021-01-22
Category : Medical
ISBN : 9780128231890

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Inborn Errors of Immunity by Asghar Aghamohammadi,Hassan Abolhassani,Nima Rezaei,Reza Yazdani Pdf

Awareness among clinicians about PIDs, which consist of more than 400 different entities, plays an important role in ensuring that patients receive a timely diagnosis. Furthermore, clinicians who are educated about PIDs can give their patients access to optimal management of their condition, thus helping the patient achieve a better quality-of-life and long-term prognosis. Inborn Errors of Immunity: A Practical Guide provides the most up-to-date information for busy students, nurses, clinical residents, practicing physicians, and even basic researchers. Readers will benefit from a well-structured breakdown of complicated PID diseases, including approaches to their clinical signs/symptoms and immunologic/laboratory findings. Presents valuable contribution of more than 40 expert chapter authors, from top centers spanning five continents, each in a specific PID field Covers various aspects of PID using updated clinical guidelines and standard stepwise pipelines Focuses on the latest developments in the molecular diagnosis and pathogenesis of diseases, with easy explanation and schematic representation of defective signaling pathways Includes dedicated sections for clinical features and immunological tests with carefully-curated figures of PID manifestations, imaging, and histological/pathological illustrations to create the first PID medial-color atlas Summarizes the updated conventional and specific treatments and follow-up notes for different PID diseases

Author : F. Cockburn
Publisher : Springer Science & Business Media
Page : 298 pages
File Size : 55,7 Mb
Release : 2012-12-06
Category : Medical
ISBN : 9789400973251

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Inborn Errors of Metabolism in Humans by F. Cockburn Pdf

Author : Anonim
Publisher : ScholarlyEditions
Page : 17 pages
File Size : 44,8 Mb
Release : 2012-12-10
Category : Medical
ISBN : 9781464989568

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Inborn Errors of Metabolism: New Insights for the Healthcare Professional: 2012 Edition by Anonim Pdf

Inborn Errors of Metabolism: New Insights for the Healthcare Professional / 2012 Edition is a ScholarlyPaper™ that delivers timely, authoritative, and intensively focused information about Inborn Errors of Metabolism in a compact format. The editors have built Inborn Errors of Metabolism: New Insights for the Healthcare Professional / 2012 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Inborn Errors of Metabolism in this eBook to be deeper than what you can access anywhere else, as well as consistently reliable, authoritative, informed, and relevant. The content of Inborn Errors of Metabolism: New Insights for the Healthcare Professional / 2012 Edition has been produced by the world’s leading scientists, engineers, analysts, research institutions, and companies. All of the content is from peer-reviewed sources, and all of it is written, assembled, and edited by the editors at ScholarlyEditions™ and available exclusively from us. You now have a source you can cite with authority, confidence, and credibility. More information is available at http://www.ScholarlyEditions.com/.

Author : Vernon Reid Sutton,Ayman W. El-Hattab
Publisher : Elsevier Health Sciences
Page : 128 pages
File Size : 50,7 Mb
Release : 2018-03-22
Category : Medical
ISBN : 9780323584128

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Inborn Errors of Metabolism, An Issue of Pediatric Clinics of North America by Vernon Reid Sutton,Ayman W. El-Hattab Pdf

The guest editors have compiled expert authors to provide current updates on the clinical management of inborn errors of metabolism. Authors have contributed clinical review articles on the following topics: Inborn errors of metabolism overview: pathophysiology, manifestations, evaluation, and management; Inborn errors of metabolism with acidosis: organic acidemias and defects of pyruvate and ketone body metabolism; Inborn errors of metabolism with hyperammonemia: urea cycle defects and related disorders; Inborn errors of metabolism with hypoglycemia: glycogen storage diseases and gluconeogenesis defects; Inborn errors of metabolism with myopathy: defects of fatty acid oxidation and carnitine transport; Inborn errors of metabolism with seizures: defects of glycine and serine metabolism and co-factor related disorders; Inborn errors of metabolism with hepatopathy: metabolism defects of galactose, fructose, and tyrosine; Inborn errors of metabolism with cognitive impairment: metabolism defects of phenylalanine, homocysteine and methionine, purine and pyrimidine, and creatine; Inborn errors of metabolism with movement disorders: defects in metal transport and neurotransmitter metabolism; Inborn errors of metabolism involving complex molecules: lysosomal and peroxisomal storage diseases; Inborn errors of metabolism with complex phenotypes: mitochondrial disorders and congenital disorders of glycosylation; and Newborn screening: history, current status, and future directions.

Author : Mohamed A. Elmonem,Lambertus Petrus Van Den Heuvel
Publisher : Frontiers Media SA
Page : 131 pages
File Size : 53,9 Mb
Release : 2021-10-29
Category : Science
ISBN : 9782889715671

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Newborn Screening for Inborn Errors of Metabolism by Mohamed A. Elmonem,Lambertus Petrus Van Den Heuvel Pdf

Author : H. Bickel,R. Guthrie,G. Hammersen
Publisher : Springer Science & Business Media
Page : 354 pages
File Size : 54,9 Mb
Release : 2012-12-06
Category : Medical
ISBN : 9783642674884

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Neonatal Screening for Inborn Errors of Metabolism by H. Bickel,R. Guthrie,G. Hammersen Pdf

Although neonatal screening was begun only 20 years ago, and is consequently still in its early stages, it is already a classic example of efficient preventive pediatrics. At present, routine neonatal screening covering a satisfactory percentage of newborn babies is carried out in only a small part ofthe world. For some five diseases enough infants have been screened to give reasonably reliable information about the frequency of these diseases in various populations. Interesting differences are beginning to appear in popula tions of different ethnic and racial background. The medical importance of neonatal screening is especially obvious in metabolic diseases that are not too rare and for which effective treatment depends upon an early diagnosis, such as phenylketonuria, galactosemia, and - a more recent screening pro gram - hypothyroidism. About 1 of 4000 newborns is affected with hypothyroidism and can receive timely substitution with thyroid hormone. Of 34.5 million babies tested for phenylketonuria, 3000 cases have been diagnosed in time to prevent mental retardation by means of dietary therapy.