Linda De Meirleir's Books

Pediatric Neurology Part III

Chapter 169. Disorders of pyruvate metabolism

By: Linda De Meirleir

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Pediatric Neurology Part III

Chapter 169. Disorders of pyruvate metabolism

By: Linda De Meirleir

Pyruvate dehydrogenase and pyruvate carboxylase deficiency are the most common disorders in pyruvate metabolism. Diagnosis is made by enzymatic and DNA analysis after basic biochemical tests in plasma, urine, and CSF. Pyruvate dehydrogenase has three main subunits, an additional E3-binding protein and two complex regulatory enzymes. Most frequent are deficiencies in PDH-E1α. There is a spectrum of clinical presentations in E1α deficiency, ranging in boys from severe neonatal lactic acidosis, Leigh encephalopathy, to later onset of neurological disease such as intermittent ataxia or dystonia. Females tend to have a more uniform presentation resembling nonprogressive cerebral palsy. Neuroradiological abnormalities such as corpus callosum agenesis are seen more frequently in girls, basal ganglia and midbrain disturbances in boys. Deficiencies in the other subunits have also been described, but in a smaller number of patients. Pyruvate carboxylase deficiency has three clinical phenotypes. The infantile type is characterized mainly by severe developmental delay, failure to thrive, and seizures. The second type is characterized by neonatal onset of severe lactic acidosis with rigidity and hypokinesia. A third form is rarer with intermittent episodes of lactic acidosis and ketoacidosis. Neuroradiological findings such as cystic periventricular leukomalacia have been described.

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Elsevier Inc. Chapters

Published Date

ISBN 10

0128084359

ISBN 13

9780128084359

Volpe's Neurology of the Newborn E-Book

By: Joseph J. Volpe,Terrie E. Inder,Basil T. Darras,Linda S. de Vries,Adre J du Plessis,Jeffrey Neil,Jeffrey M Perlman

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Volpe's Neurology of the Newborn E-Book

By: Joseph J. Volpe,Terrie E. Inder,Basil T. Darras,Linda S. de Vries,Adre J du Plessis,Jeffrey Neil,Jeffrey M Perlman

A clear, engaging writing style, hundreds of full-color images, and new information throughout make Volpe's Neurology of the Newborn, 6th Edition, an indispensable resource for those who provide care for neonates with neurological conditions. World authority Dr. Joseph Volpe, along with Dr. Terrie E. Inder and other distinguished editors, continue the unparalleled clarity and guidance you've come to expect from the leading reference in the field – keeping you up to date with today's latest advances in diagnosis and management, as well as the many scientific and technological advances that are revolutionizing neonatal neurology. - Provides comprehensive coverage of neonatal neurology, solely written by the field's founding expert, Dr. Joseph Volpe - for a masterful, cohesive source of answers to any question that arises in your practice. - Focuses on clinical evaluation and management, while also examining the many scientific and technological advances that are revolutionizing neonatal neurology. - Organizes disease-focused chapters by affected body region for ease of reference. - Features a brand new, full-color design with hundreds of new figures, tables, algorithms, and micrographs. - Includes two entirely new chapters: Neurodevelopmental Follow-Up and Stroke in the Newborn; a new section on Neonatal Seizures; and an extensively expanded section on Hypoxic-Ischemia and Other Disorders. - Showcases the experience and knowledge of a new editorial team, led by Dr. Joseph Volpe and Dr. Terrie E. Inder, Chair of the Department of Pediatric Newborn Medicine at Brigham and Women's Hospital, all of whom bring a wealth of insight to this classic text. - Offers comprehensive updates from cover to cover to reflect all of the latest information regarding the development of the neural tube; prosencephalic development; congenital hydrocephalus; cerebellar hemorrhage; neuromuscular disorders and genetic testing; and much more. - Uses an improved organization to enhance navigation. - Expert ConsultTM eBook version included with purchase. This enhanced eBook experience allows you to search all of the text, figures, Q&As, and references from the book on a variety of devices.

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1526

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Elsevier Health Sciences

Published Date

ISBN 10

0323508650

ISBN 13

9780323508650

An Atlas of Neonatal Brain Sonography

By: Paul Govaert,Linda S. de Vries

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An Atlas of Neonatal Brain Sonography

By: Paul Govaert,Linda S. de Vries

This Atlas covers the entire spectrum of brain disease as studied with ultrasound, illustrated throughout with superb-quality images. It is aimed at neonatologists and radiologists confronted with everyday clinical questions on the neonatal ward. Most newborn brain disorders can be identified with ultrasound; this book will therefore be particularly useful in settings with limited MRI facilities. Prenatal ultrasound specialists will also find it valuable as a postnatal reference in their field of interest. Suggestions for differential diagnosis accompany all the sonographic findings, guiding the clinician in proceeding from an abnormal image to a diagnosis. This second edition of the Atlas has been brought up to date to include the many advances in technique and interpretation that have been made in the past decade. The images have been replaced with new ones of higher quality, and all the line artwork has been standardised and improved. Readership Neonatologists, radiologists, neuroradiologists with an interest in neonatal ultrasound From reviews of the first edition: "This is the most challenging and comprehensive book on this theme, and is an essential reference for clinicians to make a correct diagnosis." —Satoshi Takada, Brain and Development "This can be little doubt that this title represents the definitive work on neonatal cranial ultrasound. The authors have had extensive experience in the use of ultrasound scanning the neonatal brain for almost as long as ultrasound has been used to investigate intracranial pathology on the neonatal unit. Their combined experience is most impressive." —Malcolm Leven, Archives of Disease in Childhood

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434

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John Wiley & Sons

Published Date

ISBN 10

1898683565

ISBN 13

9781898683568

Williams Hematology, 10th Edition

By: Kenneth Kaushansky,Marshall A. Lichtman,Josef T. Prchal,Marcel M. Levi,Linda J. Burns

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Williams Hematology, 10th Edition

By: Kenneth Kaushansky,Marshall A. Lichtman,Josef T. Prchal,Marcel M. Levi,Linda J. Burns

The landmark text that has guided generations of hematologists and related practitioners―updated with the latest research findings and improved format and presentation Long revered for its comprehensiveness and extraordinary depth of detail, Williams Hematology provides essential coverage of the origins, pathophysiological mechanisms, and management of benign and malignant disorders of blood and marrow cells and coagulation proteins. The text contains a wealth of basic science and translational pathophysiology for optimal, lifelong learning. Experts in research and clinical hematology, the editors are known worldwide for their contributions to the field. This new edition contains everything that has made Williams Hematology the go-to resource for decades and has been updated with new chapters and critical new research into the molecular mechanisms responsible for hematological disorders and the impact on diagnosis and treatment. And the new format enables you to access each chapter via content modules covering key topics, with summaries, infographics, and cases―all linked to review questions for self-assessment. The full-color presentation integrates images of blood and tissue findings where they are cited in the text. NEW TO THIS EDITION: Updated and revised content reflecting the latest research and developments Convenient format that streamlines the learning process and improves retention Additional chapters added on: Immune Checkpoint Inhibitors Immune Cell Therapy: Chimeric Antigen Receptor T Cell Therapy Immune Cell Therapy Dendritic Cell and Natural Killer Cell Therapy The processes of cell death and survival Application of Big Data and Deep Learning in Hematology Williams Hematology Cases with multiple-choice questions including detailed explanations—perfect preparation for the boards Continuously updated online content with comprehensive drug therapy database and other resources

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2705

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McGraw Hill Professional

Published Date

ISBN 10

126046413X

ISBN 13

9781260464139

Williams Hematology, 9E

By: Kenneth Kaushansky,Marshall A. Lichtman,Josef Prchal,Marcel M. Levi,Oliver W. Press,Linda J. Burns,Michael Caligiuri

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Williams Hematology, 9E

By: Kenneth Kaushansky,Marshall A. Lichtman,Josef Prchal,Marcel M. Levi,Oliver W. Press,Linda J. Burns,Michael Caligiuri

Publisher's Note: Products purchased from Third Party sellers are not guaranteed by the publisher for quality, authenticity, or access to any online entitlements included with the product. The world's most highly regarded reference text on the mechanisms and clinical management of blood diseases A Doody's Core Title for 2020! Edition after edition, Williams Hematology has guided generations of clinicians, biomedical researchers, and trainees in many disciplines through the origins, pathophysiological mechanisms, and management of benign and malignant disorders of blood cells and coagulation proteins. It is acknowledged worldwide as the leading hematology resource, with editors who are internationally regarded for their research and clinical achievements and authors who are luminaries in their fields. The Ninth Edition of Williams Hematology is extensively revised to reflect the latest advancements in basic science, translational pathophysiology, and clinical practice. In addition to completely new chapters, it features a full-color presentation that includes 700 photographs, 300 of which are new to this edition, and 475 illustrations. Recognizing that blood and marrow cell morphology is at the heart of diagnostic hematology, informative color images of the relevant disease topics are conveniently integrated into each chapter, allowing easy access to illustrations of cell morphology important to diagnosis. Comprehensive in its depth and breath, this go-to textbook begins with the evaluation of the patient and progresses to the molecular and cellular underpinnings of normal and pathological hematology. Subsequent sections present disorders of the erythrocyte, granulocytes and monocytes, lymphocytes and plasma cells, malignant myeloid and lymphoid diseases, hemostasis and thrombosis, and transfusion medicine.

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2528

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McGraw Hill Professional

Published Date

ISBN 10

0071833013

ISBN 13

9780071833011

Book's by Linda De Meirleir

Pediatric Neurology Part III

Pediatric Neurology Part III

Volpe's Neurology of the Newborn E-Book

Volpe's Neurology of the Newborn E-Book

An Atlas of Neonatal Brain Sonography

An Atlas of Neonatal Brain Sonography

Williams Hematology, 10th Edition

Williams Hematology, 10th Edition

Williams Hematology, 9E

Williams Hematology, 9E

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