Human Genetic Diseases: A Practical Approach
نویسندگان
چکیده
منابع مشابه
Neuromuscular diseases in children: a practical approach.
This issue of Pediatric Anesthesia contains reviews of the most recent knowledge in the clinical and anesthetic management of pediatric patients with several different neuromuscular disorders as well as essays on related clinical topics. Many neuromuscular disorders are rare inherited conditions. Usually, these are diagnosed during infancy, childhood, or adolescence. The goal of basing clinical...
متن کاملStem Cells Application in Modeling of Human Genetic Diseases
The use of animal models in modeling of human genetic disease has many advantages. In some cases, however, this method may not be applicable due to some limitations, such as differences in tissue composition, anatomy and physiology of humans and animals. Isogenic human disease models are a population of cells that are selected or engineered to model a specific genetic disease, in vitro. They ar...
متن کاملHemophilia: a practical approach to genetic testing.
Hemophilia and von Willebrand disease together account for the large majority of congenital bleeding disorders. Contemporary management, including development of safer clotting factor concentrates and increased emphasis on long-term follow-up in comprehensive hemophilia centers, has improved both quality of life and longevity for patients with congenital bleeding disorders. In addition to facil...
متن کاملA Practical Approach to Genetic Hypokalemia
Mutations in genes encoding ion channels, transporters, exchangers, and pumps in human tissues have been increasingly reported to cause hypokalemia. Assessment of history and blood pressure as well as the K(+) excretion rate and blood acid-base status can help differentiate between acquired and inherited causes of hypokalemia. Familial periodic paralysis, Andersen's syndrome, congenital chlorid...
متن کاملA practical approach to the genetic neuropathies.
Charcot-Marie-Tooth disease is the commonest inherited neuromuscular disease. It is characterised by degeneration of peripheral sensory and motor nerves and can be classified into axonal and demyelinating forms. This review provides a diagnostic approach to patients with suspected inherited neuropathy and an algorithm for genetic testing that includes recent advances in genetics such as next-ge...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: FEBS Letters
سال: 1987
ISSN: 0014-5793
DOI: 10.1016/0014-5793(87)80045-5