منابع مشابه
Inborn Errors of Metabolism: Advances in Diagnosis and Therapy.
Inborn errors of metabolism (IEMs) are a large class of genetic disorders characterized by disruption of cellular biochemical functions. Although individual IEMs are rare, collectively they represent a large and diverse class of genetic conditions, with new disorders and disease mechanisms being described regularly. Advances in the understanding of the molecular and biochemical etiologies of ma...
متن کاملSome Recent Advances in Inborn Errors of Metabolism
ANUS, RECTUM AND COLON. By J. C. Goligher. Second Edition. (Pp. 1120; figs. 630 and 6 colour plates, 210s). London: Bailliere, Tindall & Cassell, 1967. THE first edition of this work was hailed as "the best book on the subject in the English language". Another reviewer stated "it should be in the library of every proctologist or abdominal surgeon". The second edition maintains the same high sta...
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 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 Human Genetics
سال: 2019
ISSN: 1434-5161,1435-232X
DOI: 10.1038/s10038-018-0535-7