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Mitochondrial Disease Genes Compendium
The field of Mitochondrial Medicine has been dominated by symptom constellation-based diagnostic categorization since the first clinical syndrome was described three decades ago. Now, as rapidly expanding knowledge has revealed that mitochondrial diseases may result from several hundred distinct gene disorders with extensive clinical and mutation heterogeneity, the most useful guide for clinical care and research embraces a gene-centric approach to each individual's disorder. Together with international colleagues, Dr. Marni Falk has developed the Mitochondrial Disease Sequence Data Resource (MSeqDR), an online, community curated, centralized data resource of mitochondrial disease data from ...
Inherited Metabolic Disease in Adults
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.
Neuromuscular Disease
This book provides an accessible guide to neuromuscular disorders using case scenarios from the world-renowned MRC Centre for Neuromuscular Diseases at the National Hospital, Queen Square, London, UK. Fifty genetic and acquired disorders are presented in a practical, easy-to-read format, including those that are common and also some which are rare. Each case covers the history, examination and investigations, including neurophysiology, neuroradiology and neuropathology if appropriate. Discussions of each case include the differential diagnosis, useful clinical pointers and a brief summary of the management of the condition. Neuromuscular Disease: Case Studies from Queen Square is aimed at neurology trainees and consultant general neurologists.
Inborn Metabolic Diseases
This work is recognised as the standard textbook for professionals involved in the diagnosis and management of inborn errors of metabolism (IEM) and an essential resource in this multidisciplinary field. For the 6th edition all 43 chapters have been newly written or revised by authors with particular expertise in their subject areas. Contents: A clinical and biochemical approach to the recognition and diagnosis of IEM with algorithms to symptoms, signs, and syndromes in patients of all ages; Emergency treatments; Medications – Separate comprehensive sections on IEM of: Carbohydrates; Mitochondrial Energy; Amino and organic acids; Vitamin-responsive defects; Neurotransmitter and Small peptides, Lipid and Bile Acids; Nucleic Acid and Heme; Organelles – Disorders affecting the synthesis and remodelling of complex lipids and fatty acid homeostasis are now included.
Clinical Mitochondrial Medicine
This interactive clinical textbook takes a system- and case-based approach in understanding mitochondrial disorders in clinical practice.
Neurology
Neurology: A Queen Square Textbook, second edition, is a fully revised and updated companion that demonstrates the rapid pace of advancement within clinical neurology and applied neuroscience A comprehensive and practical overview of current developments within clinical neurology, synthesising clinical neurology with translational research Expertly edited and written by neurologists, neuroscientists and neurosurgeons working at Queen Square, advised by an distinguished International Editor team to present a global perspective Introductory chapters summarise the basic sciences underpinning the practice of clinical neurology, including genetics, channelopathies, immunology, neurophysiology and...
JIMD Reports - Volume 11
JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.
Pediatric Nephrology
Over the course of the previous seven editions, Pediatric Nephrology has become the standard reference text for students, trainees, practicing physicians (pediatricians, nephrologists, internists, and urologists), subspecialists, and allied health professionals seeking information about children’s kidney diseases. It is global in perspective, reflecting the fact that the international group of editors are all acknowledged world experts. The latest edition of this text is no different, providing a comprehensive, state-of-the-art overview on pediatric nephrology. Much like the previous edition, the latest edition reviews the most critical aspects of the field. Topics covered include developm...
JIMD Reports - Volume 10
JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.
