Maladie de Krabbe infantile
Home > General > Maladie de Krabbe infantile
Maladie de Krabbe infantile

Maladie de Krabbe infantile


     0     
5
4
3
2
1



International Edition


About the Book

La maladie de Krabbe (MK), d'abord décrite par Knud Krabbe en 1916, est une leucodystrophie métabolique causée par une surcharge lysosomiale. C'est une maladie héréditaire rare, de transmission autosomique récessive. Elle est due à une mutation du gène GALC entraînant une déficience de l'enzyme GALC, ce qui provoque l'accumulation de PSY dans les lysosomes. La MK présente un large spectre phénotypique avec des signes parfois non spécifiques, ce qui rend le diagnostic difficile. La forme la plus classique est la forme infantile précoce (MKIP). Les principaux symptômes incluent des signes généraux non spécifiques, une hypotonie axiale, une raideur, des difficultés d'alimentation, un retard de croissance. L'IRM cérébrale montre une leucodystrophie démyélinisante périventriculaire d'aspect tigroide. La confirmation diagnostique se fait par dosage enzymatique ou par l'analyse génétique. Une greffe de cellules souches ou de moelle osseuse peut améliorer les capacités fonctionnelles et prolonger l'espérance de vie. Cependant, la MKIP reste incurable, avec un décès survenant avant l'âge de 2 ans.


Best Sellers



Product Details
  • ISBN-13: 9786206712169
  • Publisher: KS Omniscriptum Publishing
  • Binding: BC
  • Language: fre
  • Returnable: N
  • Weight: 172 gr
  • ISBN-10: 6206712168
  • Publisher Date: 10 May 2024
  • Height: 229 mm
  • No of Pages: 76
  • Spine Width: 5 mm
  • Width: 152 mm


Similar Products

Add Photo
Add Photo

Customer Reviews

REVIEWS      0     
Click Here To Be The First to Review this Product
Maladie de Krabbe infantile
KS Omniscriptum Publishing -
Maladie de Krabbe infantile
Writing guidlines
We want to publish your review, so please:
  • keep your review on the product. Review's that defame author's character will be rejected.
  • Keep your review focused on the product.
  • Avoid writing about customer service. contact us instead if you have issue requiring immediate attention.
  • Refrain from mentioning competitors or the specific price you paid for the product.
  • Do not include any personally identifiable information, such as full names.

Maladie de Krabbe infantile

Required fields are marked with *

Review Title*
Review
    Add Photo Add up to 6 photos
    Would you recommend this product to a friend?
    Tag this Book Read more
    Does your review contain spoilers?
    What type of reader best describes you?
    I agree to the terms & conditions
    You may receive emails regarding this submission. Any emails will include the ability to opt-out of future communications.

    CUSTOMER RATINGS AND REVIEWS AND QUESTIONS AND ANSWERS TERMS OF USE

    These Terms of Use govern your conduct associated with the Customer Ratings and Reviews and/or Questions and Answers service offered by Bookswagon (the "CRR Service").


    By submitting any content to Bookswagon, you guarantee that:
    • You are the sole author and owner of the intellectual property rights in the content;
    • All "moral rights" that you may have in such content have been voluntarily waived by you;
    • All content that you post is accurate;
    • You are at least 13 years old;
    • Use of the content you supply does not violate these Terms of Use and will not cause injury to any person or entity.
    You further agree that you may not submit any content:
    • That is known by you to be false, inaccurate or misleading;
    • That infringes any third party's copyright, patent, trademark, trade secret or other proprietary rights or rights of publicity or privacy;
    • That violates any law, statute, ordinance or regulation (including, but not limited to, those governing, consumer protection, unfair competition, anti-discrimination or false advertising);
    • That is, or may reasonably be considered to be, defamatory, libelous, hateful, racially or religiously biased or offensive, unlawfully threatening or unlawfully harassing to any individual, partnership or corporation;
    • For which you were compensated or granted any consideration by any unapproved third party;
    • That includes any information that references other websites, addresses, email addresses, contact information or phone numbers;
    • That contains any computer viruses, worms or other potentially damaging computer programs or files.
    You agree to indemnify and hold Bookswagon (and its officers, directors, agents, subsidiaries, joint ventures, employees and third-party service providers, including but not limited to Bazaarvoice, Inc.), harmless from all claims, demands, and damages (actual and consequential) of every kind and nature, known and unknown including reasonable attorneys' fees, arising out of a breach of your representations and warranties set forth above, or your violation of any law or the rights of a third party.


    For any content that you submit, you grant Bookswagon a perpetual, irrevocable, royalty-free, transferable right and license to use, copy, modify, delete in its entirety, adapt, publish, translate, create derivative works from and/or sell, transfer, and/or distribute such content and/or incorporate such content into any form, medium or technology throughout the world without compensation to you. Additionally,  Bookswagon may transfer or share any personal information that you submit with its third-party service providers, including but not limited to Bazaarvoice, Inc. in accordance with  Privacy Policy


    All content that you submit may be used at Bookswagon's sole discretion. Bookswagon reserves the right to change, condense, withhold publication, remove or delete any content on Bookswagon's website that Bookswagon deems, in its sole discretion, to violate the content guidelines or any other provision of these Terms of Use.  Bookswagon does not guarantee that you will have any recourse through Bookswagon to edit or delete any content you have submitted. Ratings and written comments are generally posted within two to four business days. However, Bookswagon reserves the right to remove or to refuse to post any submission to the extent authorized by law. You acknowledge that you, not Bookswagon, are responsible for the contents of your submission. None of the content that you submit shall be subject to any obligation of confidence on the part of Bookswagon, its agents, subsidiaries, affiliates, partners or third party service providers (including but not limited to Bazaarvoice, Inc.)and their respective directors, officers and employees.

    Accept

    New Arrivals



    Inspired by your browsing history


    Your review has been submitted!

    You've already reviewed this product!