Urea cycle deficiencies: Pathophysiology and diagnostic investigation techniques (notice n° 152441)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01452cam a2200217 4500500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250112030513.0 |
| 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 | Urea cycle deficiencies: Pathophysiology and diagnostic investigation techniques |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Date of publication, distribution, etc. | 2023.<br/> |
| 500 ## - GENERAL NOTE | |
| General note | 38 |
| 520 ## - SUMMARY, ETC. | |
| Summary, etc. | Urea cycle deficiencies are inherited disorders 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. 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. |
| 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/journal-cahiers-sante-medecine-therapeutique-2023-5-page-243?lang=en">https://shs.cairn.info/journal-cahiers-sante-medecine-therapeutique-2023-5-page-243?lang=en</a> |
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