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Peroxisomes: Biogenesis, Function, and Role in Human Disease
This book provides readers with a comprehensive overview of peroxisomes and their role in human diseases. It starts by describing the history of peroxisome research and then examines in detail the current understanding of the biogenesis and function of peroxisomes. It then focuses on peroxisomal disorders and the involvement of peroxisomes in cancer and age-related diseases, discussing in detail the use of model organisms to elucidate the pathogenesis of peroxisomal disorders and the physiological importance of peroxisomal proteins. Further, the book examines diagnostic and therapeutic strategies in peroxisomal disorders as well as significant recent advances. Lastly, it addresses various topics in peroxisome research, including the isolation of peroxisomes from mammalian tissues and cells, the structural biology of peroxisomal proteins, the lipidomics of peroxisomal disorders, the value of exome sequencing, and neuropsychological testing in X-linked adrenoleukodystrophy. Given its scope, the book is a valuable resource for postgraduate students and researchers in the life sciences and clinicians in the fields of internal medicine, pediatrics, and neurology.
Peroxisomal Disorders and Regulation of Genes
In most peroxisomal disorders the nervous system is severely affected which explains the clinical and community burden they represent. This is the first book to focus not only on the mutations causing these inherited illnesses, but also on mechanisms that regulate, suppress or enhance expression of genes and their products (enzymes). Indeed since the success and completion of the Human Genome Project all genes (coding DNA sequences) are known. However, of many, their function, and the role of the gene product has not been determined. An example is X-linked adrenoleukodystrophy, the most frequent peroxisomal disorder. Children are born healthy, but in more than 1 out of 3, demyelination of the brain starts unpredictably and they die in a vegetative state. The gene mutated in most families has been known for 10 years; but the true role of the encoded protein, ALDp, is still speculative; and within the same family, very severe and asymptomatic clinical histories co-exist, unexplained by the mutation.
Essentials of Spinal Cord Injury Medicine
Spinal cord injury is a severe condition leading to serious neurological dysfunctions and changes a person's life in a sudden way. Understanding the pathophysiology of spinal cord injury will improve the prognosis and reintegration to the society of spinal cord-injured subjects. The book Essentials in Spinal Cord Injury Medicine includes seven chapters with valuable information addressing hot topics related to spinal cord injury, ranging from pathophysiology, nontraumatic spinal cord injury, complications to exoskeletons, and research therapies with mesenchymal stem cells. The book could be a valued reference for physiatrists, neurosurgeons, orthopedic surgeons, neurologists and physical therapists.
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.
JIMD Reports, Volume 44
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.
JIMD Reports, Volume 38
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. The chapter 'Open-Label Single-Sequence Crossover Study Evaluating Pharmacokinetics, Efficacy, and Safety of Once-Daily Dosing of Nitisinone in Patients with Hereditary Tyrosinemia Type 1 (HT-1)' is open access under a CC BY 4.0 license via link.springer.com.
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