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Inborn Metabolic Diseases
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 ne...
Inborn Metabolic Diseases
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 Metabolic Diseases
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 - ...
Pediatric Neurology, Part III
The child is neither an adult miniature nor an immature human being: at each age, it expresses specific abilities that optimize adaptation to its environment and development of new acquisitions. Diseases in children cover all specialties encountered in adulthood, and neurology involves a particularly large area, ranging from the brain to the striated muscle, the generation and functioning of which require half the genes of the whole genome and a majority of mitochondrial ones. Human being nervous system is sensitive to prenatal aggression, is particularly immature at birth and development may be affected by a whole range of age-dependent disorders distinct from those that occur in adults. Ev...
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...
Laboratory Guide to the Methods in Biochemical Genetics
This manual deals specifically with laboratory approaches to diagnosing inborn errors of metabolism. The key feature is that each chapter is sufficiently detailed so that any individual can adopt the described method into their own respective laboratory.
Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases
This updated and enlarged second edition is a unique source of information on the diagnosis, treatment, and follow-up of metabolic diseases. The clinical and laboratory data characteristic of rare metabolic conditions can be bewildering for clinicians and laboratory personnel alike – reference laboratory data is scattered, and clinical descriptions can be obscure. The new Physician’s Guide with the additional more than 600 diseases now featured, documents 1200 conditions grouped according to type of disorder, organ system affected (e.g. liver, kidney, etc) or phenotype (e.g. neurological, hepatic, etc). It includes relevant clinical findings and highlights the pathological values for diagnostic metabolites. Guidance on appropriate biochemical genetic testing is also provided and established experimental therapeutic protocols are described, with recommendations on follow-up and monitoring. The authors are acknowledged experts, and the book is a valuable desk reference for all who deal with inherited metabolic diseases. Chapter 73 is available open access under a Creative Commons Attribution 4.0 International License via link.springer.com
Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases
This book, combining and updating two previous editions, is a unique source of information on the diagnosis, treatment, and follow-up of metabolic diseases. The clinical and laboratory data characteristic of rare metabolic conditions can be bewildering for both clinicians and laboratory personnel. Reference laboratory data are scattered, and clinical descriptions may be obscure. The Physician’s Guide documents the features of more than five hundred conditions, grouped according to type of disorder, organ system affected (e.g. liver, kidney, etc) or phenotype (e.g. neurological, hepatic, etc). Relevant clinical findings are provided and pathological values for diagnostic metabolites highlighted. Guidance on appropriate biochemical genetic testing is provided. Established experimental therapeutic protocols are described, with recommendations on follow-up and monitoring. The authors are acknowledged experts, and the book will be a valuable desk reference for all who deal with inherited metabolic diseases.
Ion and Molecule Transport in Lysosomes
Lysosomes are key subcellular organelles that regulate the cell function. Many of the essential activities of the cell are dependent on lysosomes. Dysfunction is linked to multiple diseases - storage disorders, neurodegeneration, immunological diseases and cancer. This book discusses concepts and methods used to study lysosome ion and small molecule transport. The contents will not only attract accomplished investigators in need of a broad review and synthesis of this important subject but will also appeal to young investigators and trainees needing to acquire comprehensive knowledge and technical skills working with lysosomal ion channels and small molecule transporters. Key selling features: Summarizes the endocellular role that lysosomes play with respect to cellular waste disposal Reviews essential cellular functions of lysosomes Explores how lysosome dysfunction is the cause of many metabolic disorders Examines how lysomes are involved in storage diseases Describes various technologies and methods used in lysosome research
