Quand la peau est le miroir des reins (notice n° 125986)

détails MARC
000 -LEADER
fixed length control field 01644cam a2200313 4500500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250112014900.0
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 Kalmi, Noura
Relator term author
245 00 - TITLE STATEMENT
Title Quand la peau est le miroir des reins
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Date of publication, distribution, etc. 2023.<br/>
500 ## - GENERAL NOTE
General note 99
520 ## - SUMMARY, ETC.
Summary, etc. Fabry disease is an X-linked recessive metabolic disorder. It is an orphan disease with multisystem involvement, particularly of the skin, where the dermatologist plays a key role in early diagnosis by identifying angiokeratomas. We report the case of a young man in whom angiokeratomas revealed Fabry disease.
520 ## - SUMMARY, ETC.
Summary, etc. La maladie de Fabry est une maladie métabolique récessive liée au chromosome X. Il s’agit d’une maladie orpheline avec une atteinte multisystémique, en particulier cutanée, où le dermatologue joue un rôle clé dans le diagnostic précoce, en identifiant les angiokératomes. Nous rapportons le cas d’un jeune homme chez qui les angiokératomes ont révélé la maladie de Fabry.
690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN)
Topical term or geographic name as entry element angiokératomes
690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN)
Topical term or geographic name as entry element maladie rénale.
690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN)
Topical term or geographic name as entry element maladie de Fabry
690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN)
Topical term or geographic name as entry element angiokeratomas
690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN)
Topical term or geographic name as entry element renal disease.
690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN)
Topical term or geographic name as entry element Fabry disease
700 10 - ADDED ENTRY--PERSONAL NAME
Personal name Douhi, Zakia
Relator term author
700 10 - ADDED ENTRY--PERSONAL NAME
Personal name Choukri, Souad
Relator term author
700 10 - ADDED ENTRY--PERSONAL NAME
Personal name Baybay, Hanane
Relator term author
700 10 - ADDED ENTRY--PERSONAL NAME
Personal name Elloudi, Sara
Relator term author
700 10 - ADDED ENTRY--PERSONAL NAME
Personal name Soughi, Meryem
Relator term author
700 10 - ADDED ENTRY--PERSONAL NAME
Personal name Mernissi, Fatima Zahra
Relator term author
786 0# - DATA SOURCE ENTRY
Note Cahiers Santé Médecine Thérapeutique | 32 | 6 | 2023-11-01 | p. 330-332 | 2780-8858
856 41 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://shs.cairn.info/revue-cahiers-sante-medecine-therapeutique-2023-6-page-330?lang=fr">https://shs.cairn.info/revue-cahiers-sante-medecine-therapeutique-2023-6-page-330?lang=fr</a>

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