Déficits du cycle de l’urée : physiopathologie et techniques d’exploration diagnostique (notice n° 126032)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02608cam a2200325 4500500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250112014909.0 |
| 041 ## - LANGUAGE CODE | |
| Language code of text/sound track or separate title | fre |
| 042 ## - AUTHENTICATION CODE | |
| Authentication code | dc |
| 100 10 - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Benbella, Imane |
| Relator term | author |
| 245 00 - TITLE STATEMENT | |
| Title | Déficits du cycle de l’urée : physiopathologie et techniques d’exploration diagnostique |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Date of publication, distribution, etc. | 2023.<br/> |
| 500 ## - GENERAL NOTE | |
| General note | 83 |
| 520 ## - SUMMARY, ETC. | |
| Summary, etc. | Urea cycle deficiency is an inherited disorder of the ammonia detoxification pathway and arginine synthesis. They are caused by deficiencies in urea cycle enzymes. The urea cycle is the main metabolic pathway for purifying ammonia, a toxic waste product of the body’s protein catabolism. The clinical signs are therefore partly linked to ammonia intoxication. Diagnosis can be made at any age and requires the use of a range of investigative techniques, most of which are specific. The aim of our work is to review the pathophysiology and clinical features of urea cycle deficiencies and to present the various biological diagnostic methods currently available and used to investigate these deficiencies. |
| 520 ## - SUMMARY, ETC. | |
| Summary, etc. | Les déficits du cycle de l’urée sont des anomalies héréditaires de la voie de détoxication de l’ammoniac – déchet toxique issu du catabolisme protidique de l’organisme – et de la synthèse de l’arginine. Elles sont dues à des déficits des enzymes du cycle de l’urée, qui constitue la voie métabolique principale permettant d’épurer l’ammoniac. Les signes cliniques sont, alors, en partie liés à l’intoxication par l’ammoniac. Le diagnostic, quant à lui, peut être établi à tout âge, par l’utilisation de différentes techniques d’exploration pour la plupart spécifiques. Notre travail vise à rappeler la physiopathologie et la clinique des déficits du cycle de l’urée et à présenter les différents moyens diagnostiques biologiques actuellement disponibles et utilisés dans l’exploration de ces déficits. |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | cycle de l’urée |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | acide orotique |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | hyperammoniémie |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | acides aminés plasmatiques |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | hyperammoniaemia |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | plasma amino acids |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | urea cycle |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | orotic acid |
| 700 10 - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Azzine, Zineb |
| Relator term | author |
| 700 10 - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bouhou, Fahd |
| Relator term | author |
| 700 10 - ADDED ENTRY--PERSONAL NAME | |
| Personal name | El Amouri, Jihad |
| Relator term | author |
| 700 10 - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mahmoud, Mustapha |
| Relator term | author |
| 700 10 - ADDED ENTRY--PERSONAL NAME | |
| Personal name | El Boukhrissi, Fatima |
| Relator term | author |
| 786 0# - DATA SOURCE ENTRY | |
| Note | Cahiers Santé Médecine Thérapeutique | 32 | 5 | 2023-09-01 | p. 243-248 | 2780-8858 |
| 856 41 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://shs.cairn.info/revue-cahiers-sante-medecine-therapeutique-2023-5-page-243?lang=fr">https://shs.cairn.info/revue-cahiers-sante-medecine-therapeutique-2023-5-page-243?lang=fr</a> |
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