This up-to-date reference on the nutrition management of inherited metabolic diseases (IMD) covers a wide range of these disorders, including phenylketonuria and other aminoacidopathies, organic acide
Inherited Cancer Syndromes gives a clinical overview of the difficult aspect of cancer patient care.The chapters on syndromes are divided by type of cancer, and each includes discussion of risk asse
Clinical cardiologists are encountering an important challenge in the caring of families with inherited cardiac diseases. The majority of the inherited cardiac diseases causing sudden death express th
The blinding diseases of inherited retinal degenerations have no treatments, and age-related macular degeneration has no cures, despite the fact that it is an epidemic among the elderly, with 1 in 3-4
This BCAM SpringerBriefs is a treaty of the Infinity-Laplace Equation, which has inherited many features from the ordinary Laplace Equation, and is based on lectures by the author. The Infinity-
This book was motivated by the notion that some of the underlying difficulty in challenging instances of graph-based problems (e.g., the Traveling Salesman Problem) may be “inherited” from simpler gra
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 se
Mitochondrial cytopathies are mutations in the inherited maternal mitochondrial genome, or the nuclear DNA-mutation. Mitochondrial respiratory chain disorders (RCD) are a group of genetically and clin
Chorea: Causes and Management provides a comprehensive and timely update for the wide variety of neurological conditions, both inherited and acquired, which result in this common hyperkinetic movement
This book identifies lessons learned from natural hazard experiences to help communities plan for and adapt to climate change. Written by leading experts, the case studies examine diverse experiences,
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 s
This comprehensive, up-to-date guide covers diagnosis, clinical features and management of inherited disorders conferring cancer susceptibility. Includes risk analysis, genetic counselling, predictive
Next Generation Sequencing: Chemistry, Technology and Applications, by P. Hui Application of Next Generation Sequencing to Molecular Diagnosis of Inherited Diseases, by W. Zhang, H. Cui, L.-J.C. Wong
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 s
Subjects in the monograph “Biophysics of the Failing Heart” include state of the art chapters considering major biophysical mechanisms for why hearts responding to acquired or inherited stressors ente
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 s
Neuromuscular imaging has increasingly become an important tool in the detection and diagnosis of inherited and acquired neuromuscular disease. This book is a groundbreaking radiological and neurologi
Lynch syndrome (LS) is the most common cause of inherited colorectal cancer, a disease with a high mortality rate. An estimated 37,000 of diagnosed colorectal cancer cases worldwide are attributed to
This book covers the full range of relevant conditions: inherited skin disorders; nevi; viral, bacterial, fungal, and parasitic infections; acne; allergic diseases; autoimmune skin disorders; connecti
Neurofibromatosis type 1 (NF1), caused by mutational inactivation of the NF1 tumour suppressor gene, is one of the most common dominantly inherited human disorders, affecting 1 in 3000 individuals wor
Mitochondrial cytopathies are mutations in the inherited maternal mitochondrial genome, or the nuclear DNA-mutation. Mitochondrial respiratory chain disorders (RCD) are a group of genetically and clin
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 s
This volume investigates how the mitochondrial genome is transmitted, segregated, and inherited. It starts by describing mtDNA mutations and deletions and how these impact on the offspring’s well-bein
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 s
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 s
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 s
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 s
Congenital adrenal hyperplasia (CAH) consists of a group of disorders of adrenal steroidogenesis. Each disorder results from an inherited deficiency of one of the several enzymes necessary for normal
The importance of gene therapy is increasing more and more. This book covers both somatic gene therapy of inherited human diseases as well as of cancer, with emphasis on malignancies of the hematopoie
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 s
The vast expansion in research on tumorigenesis has greatly increased our understanding of tumor development in patients with inherited endocrine tumor syndromes. SuperMEN1, Pituitary, Parathyroid and
Galileo and Newton’s work towards the mathematisation of the physical world; Leibniz’s universal logical calculus; the Enlightenment’s mathematique sociale. John von Neumann inherited all these aims a
The gene, and its protein product, in a serious inherited muscle disease was first identified in the case of Duchenne muscular dystrophy some twenty years ago. Dystrophin turned out to be a sarcolemm
Genomic imprinting refers to a recently discovered phenomenon in which the expression pattern of an allele depends on whether that allele was inherited from the mother or the father. This difference
Like the journal TOPOl, the TOPOl Library is based on the assumption that philosophy is a lively, provocative, delightful activity, which constantly challenges our inherited habits, painstakingly elab
This book approaches the prevention of fatal incidents in outdoor education and related fields through detailed study of past tragedies. Although safety in many fields is built on accumulated lessons
This book provides an overview of the design and development of learning games using examples from those created by the authors over last decade. It provides lessons learned about processes, successfu
This book provides an analytical discussion of the status of disaster risk reduction and governance in an Indian context, drawing examples and lessons from the output of the national and regional leve
This collection of papers aims to draw lessons and apply indigenous knowledge, wisdom and cultural traditions to suit policy contexts describing the (a) role of individuals (b) communities, and (
This timely book explores the lessons learned in and potentials of injecting supercritical CO2 into depleted oil and gas reservoirs, in order to maximize both hydrocarbon recovery and the storage
