Inborn

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Inborn

Author : Thomas Enger
Publisher : Orenda Books
ISBN 13 : 1495655032
Total Pages : 372 pages
Book Rating : 4.4/5 (956 download)

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Book Synopsis Inborn by : Thomas Enger

Download or read book Inborn written by Thomas Enger and published by Orenda Books. This book was released on 2019-01-25 with total page 372 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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

Inborn Errors of Development

Author : Charles J. Epstein
Publisher : Oxford University Press, USA
ISBN 13 : 019514502X
Total Pages : 1110 pages
Book Rating : 4.1/5 (951 download)

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Book Synopsis Inborn Errors of Development by : Charles J. Epstein

Download or read book Inborn Errors of Development written by Charles J. Epstein and published by Oxford University Press, USA. This book was released on 2004 with total page 1110 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Inborn Errors of Metabolism

Author : Brendan Lee
Publisher : Oxford Monographs on Medical G
ISBN 13 : 0199797587
Total Pages : 393 pages
Book Rating : 4.1/5 (997 download)

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Book Synopsis Inborn Errors of Metabolism by : Brendan Lee

Download or read book Inborn Errors of Metabolism written by Brendan Lee and published by Oxford Monographs on Medical G. This book was released on 2014-10-13 with total page 393 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Inborn Errors of Immunity

Author : Asghar Aghamohammadi
Publisher : Academic Press
ISBN 13 : 0128231890
Total Pages : 396 pages
Book Rating : 4.1/5 (282 download)

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Book Synopsis Inborn Errors of Immunity by : Asghar Aghamohammadi

Download or read book Inborn Errors of Immunity written by Asghar Aghamohammadi and published by Academic Press. This book was released on 2021-01-22 with total page 396 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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

Inborn Metabolic Diseases

Author : John Fernandes
Publisher : Springer Science & Business Media
ISBN 13 : 354028785X
Total Pages : 548 pages
Book Rating : 4.5/5 (42 download)

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Book Synopsis Inborn Metabolic Diseases by : John Fernandes

Download or read book Inborn Metabolic Diseases written by John Fernandes and published by Springer Science & Business Media. This book was released on 2006-11-22 with total page 548 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Inborn Knowledge

Author : Colin McGinn
Publisher : MIT Press
ISBN 13 : 0262029391
Total Pages : 148 pages
Book Rating : 4.2/5 (62 download)

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Book Synopsis Inborn Knowledge by : Colin McGinn

Download or read book Inborn Knowledge written by Colin McGinn and published by MIT Press. This book was released on 2015-12-04 with total page 148 pages. Available in PDF, EPUB and Kindle. Book excerpt: An argument that nativism is true and important but mysterious, examining the particular case of ideas of sensible qualities. In this book, Colin McGinn presents a concise, clear, and compelling argument that the origins of knowledge are innate—that nativism, not empiricism, is correct in its theory of how concepts are acquired. McGinn considers the particular case of sensible qualities—ideas of color, shape, taste, and so on. He argues that these, which he once regarded as the strongest case for the empiricist position, are in fact not well explained by the empiricist account that they derive from interactions with external objects. Rather, he contends, ideas of sensible qualities offer the strongest case for the nativist position—that a large range of our knowledge is inborn, not acquired through the senses. Yet, McGinn cautions, how this can be is deeply problematic; we have no good theories about how innate knowledge is possible. Innate knowledge is a mystery, though a fact. McGinn describes the traditional debate between empiricism and nativism; offers an array of arguments against empiricism; constructs an argument in favor of nativism; and considers the philosophical consequences of adopting the nativist position, discussing perception, the mind–body problem, the unconscious, metaphysics, and epistemology.

Biomarkers in Inborn Errors of Metabolism

Author : Uttam Garg
Publisher : Elsevier
ISBN 13 : 0128029188
Total Pages : 477 pages
Book Rating : 4.1/5 (28 download)

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Book Synopsis Biomarkers in Inborn Errors of Metabolism by : Uttam Garg

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

Pediatric Genetics and Inborn Errors of Metabolism

Author : Christine M. Houser
Publisher : Springer Science & Business Media
ISBN 13 : 1493905813
Total Pages : 156 pages
Book Rating : 4.4/5 (939 download)

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Book Synopsis Pediatric Genetics and Inborn Errors of Metabolism by : Christine M. Houser

Download or read book Pediatric Genetics and Inborn Errors of Metabolism written by Christine M. Houser and published by Springer Science & Business Media. This book was released on 2014-04-12 with total page 156 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Neonatal Screening for Inborn Errors of Metabolism

Author : H. Bickel
Publisher : Springer Science & Business Media
ISBN 13 : 3642674887
Total Pages : 354 pages
Book Rating : 4.6/5 (426 download)

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Book Synopsis Neonatal Screening for Inborn Errors of Metabolism by : H. Bickel

Download or read book Neonatal Screening for Inborn Errors of Metabolism written by H. Bickel and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 354 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Inborn Metabolic Diseases

Author : Jean-Marie Saudubray
Publisher : Springer Science & Business Media
ISBN 13 : 3642157203
Total Pages : 657 pages
Book Rating : 4.6/5 (421 download)

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Book Synopsis Inborn Metabolic Diseases by : Jean-Marie Saudubray

Download or read book Inborn Metabolic Diseases written by Jean-Marie Saudubray and published by Springer Science & Business Media. This book was released on 2011-11-16 with total page 657 pages. Available in PDF, EPUB and Kindle. Book excerpt: Being up to Date: Status Quo and Trends of Treatment For those involved in the identification and management of patients with inborn errors of metabolism, this book is now recognised as the standard textbook in this interdisciplinary field. It has proved to be indispensable for professionals in specialities ranging from pediatrics, neonatology, pathological biochemistry and genetics to neurology, internal medicine, nursing, dietetics and psychology. This 5th edition has been extensively revised and updated. What ́s new - Additional chapter focusing on inborn errors affecting adults, particularly the late neurological presentations - Numerous updates on diagnostic procedures and treatment - Newly discovered disorders. As with previous editions, the book opens with a section presenting the clinical approach to inborn metabolic diseases for those cases in which a diagnosis is being sought. This now includes a chapter on the clinical presentation of metabolic diseases in the older age range, using an analogous structure. If a particular diagnosis is already suspected, the reader may refer to the following sections of the book containing general chapters on diagnostic procedures and treatment, and on specific groups of disorders. As with earlier editions, the chapters have been written by authors who are internationally recognised experts on their subjects. They provide information in a clear, relevant and concise manner using a coherent structure.

Inborn Errors of Metabolism, An Issue of Pediatric Clinics of North America

Author : Vernon Reid Sutton
Publisher : Elsevier Health Sciences
ISBN 13 : 0323584128
Total Pages : pages
Book Rating : 4.3/5 (235 download)

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Book Synopsis Inborn Errors of Metabolism, An Issue of Pediatric Clinics of North America by : Vernon Reid Sutton

Download or read book Inborn Errors of Metabolism, An Issue of Pediatric Clinics of North America written by Vernon Reid Sutton and published by Elsevier Health Sciences. This book was released on 2018-03-22 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Newborn Screening for Inborn Errors of Metabolism

Author : Mohamed A. Elmonem
Publisher : Frontiers Media SA
ISBN 13 : 2889715671
Total Pages : 131 pages
Book Rating : 4.8/5 (897 download)

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Book Synopsis Newborn Screening for Inborn Errors of Metabolism by : Mohamed A. Elmonem

Download or read book Newborn Screening for Inborn Errors of Metabolism written by Mohamed A. Elmonem and published by Frontiers Media SA. This book was released on 2021-10-29 with total page 131 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Endocrinology, Diabetes & Inborn Errors of Metabolism

Author : Will Carroll
Publisher : Elsevier Health Sciences
ISBN 13 : 0702070939
Total Pages : pages
Book Rating : 4.7/5 (2 download)

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Book Synopsis Endocrinology, Diabetes & Inborn Errors of Metabolism by : Will Carroll

Download or read book Endocrinology, Diabetes & Inborn Errors of Metabolism written by Will Carroll and published by Elsevier Health Sciences. This book was released on 2016-10-14 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt: Endocrinology, Diabetes & Inborn Errors of Metabolism is a new e-book in a collection of subject-themed e-books containing relevant key articles from Paediatrics & Child Health. The e-books provide a perfect source of revision for post-graduate exams in paediatrics and portfolio material for life-long learning. As well as mapping to the requirements of post-graduate training in paediatrics, these e-books also enable anyone with a short-term interest in a specific area to buy individual articles at a price-point that will give affordable access to all readers (from medical students to GPs and practitioners in related areas). The quality of user experience on mobiles, tablets and laptops will be an added bonus for learning on the move. About the journal The parent journal (http://www.paediatricsandchildhealthjournal.co.uk/) is a rolling, continuously updated review of clinical medicine over a 4-year cycle covering all the important topics for post-graduate exams in paediatrics. The journal’s articles are refreshed, updated, augmented or replaced as appropriate each time the subject is due for revision to provide a concise overview of knowledge and practice core to the curriculum. Each article is written by invited experts and overseen by the relevant subject specialist on the Board. A trainee representative on the Board ensures relevance and accessibility for exam candidates.

Inborn Errors of Metabolism in Animals

Author : Charlotte Kenton
Publisher :
ISBN 13 :
Total Pages : 36 pages
Book Rating : 4.:/5 (319 download)

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Book Synopsis Inborn Errors of Metabolism in Animals by : Charlotte Kenton

Download or read book Inborn Errors of Metabolism in Animals written by Charlotte Kenton and published by . This book was released on 1980 with total page 36 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Inborn errors of Carbohydrate Metabolism

Author : Ivan Martinez Duncker
Publisher : Frontiers Media SA
ISBN 13 : 2832550975
Total Pages : 166 pages
Book Rating : 4.8/5 (325 download)

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Book Synopsis Inborn errors of Carbohydrate Metabolism by : Ivan Martinez Duncker

Download or read book Inborn errors of Carbohydrate Metabolism written by Ivan Martinez Duncker and published by Frontiers Media SA. This book was released on 2024-07-03 with total page 166 pages. Available in PDF, EPUB and Kindle. Book excerpt: Inborn errors of carbohydrate metabolism are a heterogeneous subgroup of inborn errors that are caused by mutations in human genes coding for proteins involved in carbohydrate catabolic and anabolic pathways. Through the breakdown of sugars, carbohydrate catabolism allows a constant supply of energy (e.g. glycolysis), but also involves the breakdown of the cell’s complex oligosaccharides (e.g. lysosomal degradation of surface glycoconjugates) allowing the recycling of monosaccharides. On the other hand, anabolism of carbohydrates (e.g. gluconeogenesis) is required to supply newly synthesized sugars to catabolic pathways, also allowing interconversion of sugars and sustaining the synthetic pathways of complex carbohydrate structures such as glycosaminoglycans and glycans that are the carbohydrate moiety of glycoconjugates involved in multiple biological functions.

Inborn Errors of Skin, Hair and Connective Tissue

Author : J.B. Holton
Publisher : Springer Science & Business Media
ISBN 13 : 9401166153
Total Pages : 285 pages
Book Rating : 4.4/5 (11 download)

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Book Synopsis Inborn Errors of Skin, Hair and Connective Tissue by : J.B. Holton

Download or read book Inborn Errors of Skin, Hair and Connective Tissue written by J.B. Holton and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 285 pages. Available in PDF, EPUB and Kindle. Book excerpt: Following the pattern of previous years the 11th symposium of the S.S.I.E.M. held in the beautiful sylvan surroundings of Sussex Univ ersity, concentrated on a relatively small section of the field of inborn errors. The subject chosen-Inborn Errors of Skin, Hair and Con nective Tissue, was a highly topical one. Intensive research during the last few years particularly on the structure and disorders of connective tissue has considerably advanced our knowledge on this subject. We believe that the range of diseases covered, and the depth in which they were discussed, made this meeting unique. The proceedings contain much original material and reference information which should make them an invaluable addition to the literature on metabolic disorders. The work involved is multi-disciplinary involving among others physicists, organic chemists, biochemists, clinical chemists, paedia tricians, physicians, geneticists and neurologists. The bringing together of workers of many disciplines to contribute to the particular subject under discussion at our Symposia has always been an important objective of the Society. In this case we were very fortunate in gathering together experts from all the fields mentioned above. In particular we were honoured that Professor A. Dorfman of Chicago could accept our invitation to give the second Milner Lecture. We were also privileged to have some excellent contributions from the research scientists on whom we must rely for our ultimate understanding of the diseases, and rational approach to treatment.

Inborn Errors of Metabolism

Author : Sir Archibald Edward Garrod
Publisher :
ISBN 13 :
Total Pages : 232 pages
Book Rating : 4.:/5 (31 download)

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Book Synopsis Inborn Errors of Metabolism by : Sir Archibald Edward Garrod

Download or read book Inborn Errors of Metabolism written by Sir Archibald Edward Garrod and published by . This book was released on 1923 with total page 232 pages. Available in PDF, EPUB and Kindle. Book excerpt: