Synaptic metabolism and brain circuitries in inborn errors of metabolism
نویسندگان
چکیده
منابع مشابه
Garrod'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 ...
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Garrod,4 in I908, introduced the term ' inborn errors of metabolism' to describe biochemical abnormalities which were genetically determined, present throughout life and relatively non-lethal. He suggested that it would ultimately be possible to attribute the biochemical aberrations found in these conditions to specific enzyme defects. Recent work5 has confirmed the validity of Garrod's ideas t...
متن کاملInborn errors of sphingolipid metabolism.
I T is my intent to gather together facts pertaming to the lipidoses which might serve to focus on current problems and to call attention to possible therapeutic approaches. The particular lipidoses to be discussed involve the accumulation in tissues of sphingolipids and may be referred to as sphingolipidoses. They may be classified as “inborn errors of sphingolipid metabolism” on the basis tha...
متن کاملInborn errors of proline metabolism.
l-Proline concentration is primarily related to the balance of enzymatic activities of proline dehydrogenase [proline oxidase (POX)] and Delta-1-pyrroline-5-carboxylate (P5C) reductase. As a result, P5C plays a pivotal role in maintaining the concentration of proline in body fluids and inborn errors of P5C metabolism lead to disturbance of proline metabolism. Several inborn errors of proline me...
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ژورنال
عنوان ژورنال: Journal of Inherited Metabolic Disease
سال: 2018
ISSN: 0141-8955
DOI: 10.1007/s10545-018-00252-y