Inborn errors in metabolism in humans
نویسندگان
چکیده
منابع مشابه
Inborn Errors of Metabolism in Humans
regulation of these genes, then, are thought to be the common mechanism in tumorigenesis. Whereas physicians of antiquity saw cancer as a single disease which manifested itself in various organs, in more recent times cancer had been thought of as hundreds of separate diseases; with the current understanding of oncogenes, there is again the view of a strong common thread. In September 1982, many...
متن کاملGarrod's Inborn Errors of Metabolism
Dr. Van Liere's earlier book on this subject* was probably the first detailed study of the biology of low oxygen pressure. Investigations of the effect of high altitude, using mountain climbing or balloon ascent as a tool, go back to the late eighteenth century, but the major impetus seems to have been the need for military aviation in World War I. This interest was maintained until about 1935 ...
متن کاملInborn errors of metabolism: iron.
The iron content of the body is normally closely regulated. Despite this, iron deficiency anaemia is common in women because iron losses due to menstruation and childbirth are not always compensated for by iron absorption from the diet. The role of transferrin in delivering iron to cells and of ferritin in storing iron within cells is well understood but the proteins involved in iron transport ...
متن کاملEpilepsy in inborn errors of metabolism
Although inborn errors of metabolism are rarely found to be the cause of epilepsy, seizures are a frequent symptom in metabolic disorders. In a few of these, epilepsy responds to specific treatment by diet or supplementation. However, in most, no such treatment is available and conventional antiepileptic drugs must be used, often with no great success. However, because uncontrolled epilepsy wil...
متن کاملEpilepsy in inborn errors of metabolism.
Epilepsies associated with inborn errors of metabolism (IEM) represent a major challenge. Seizures rarely dominate the clinical presentation, which is more frequently associated with other neurological symptoms, such as hypotonia and/or cognitive disturbances. Although epilepsy in IEM can be classified in various ways according to pathogenesis, age of onset, or electroclinical presentation, the...
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ژورنال
عنوان ژورنال: FEBS Letters
سال: 1983
ISSN: 0014-5793
DOI: 10.1016/0014-5793(83)80710-8