Relevant bibliographies by topics / Maladie de Hurler

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  1. Journal articles
  2. Dissertations / Theses
  3. Book chapters

Academic literature on the topic 'Maladie de Hurler'

Author: Grafiati
Published: 5 October 2024
Last updated: 31 July 2025

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Journal articles on the topic "Maladie de Hurler"

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Imessaoudene, Belaid, Sihem Hallal, Meriem Amina Ghouali, and Arezki Berhoune. "La maladie de Hurler: à propos de 30 cas." Revue Francophone des Laboratoires 2011, no. 436 (2011): 73–76. http://dx.doi.org/10.1016/s1773-035x(11)71159-5.

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Dreyfus, JC. "La maladie de Hurler (mucopolysaccharidose type I MPSI). Mutations et polymorphismes." médecine/sciences 9, no. 11 (1993): 1289. http://dx.doi.org/10.4267/10608/2855.

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Bensaadi, N., A. Tariket, A. Benani, S. Idir, A. Hamzaoui, and S. Chalah. "SFP P-053 – Maladie de Hurler a révélation anténatale : ascite isolée." Archives de Pédiatrie 21, no. 5 (2014): 763. http://dx.doi.org/10.1016/s0929-693x(14)72023-8.

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Naoufel, B. "Dysostose multiple au cours de la maladie de Hurler à propos 03 cas." La Revue de Médecine Interne 43 (December 2022): A468. http://dx.doi.org/10.1016/j.revmed.2022.10.219.

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Boulemani, N. "Dysostose multiple au cours de la maladie de Hurler à propos 03 cas." Revue du Rhumatisme 89 (December 2022): A243—A244. http://dx.doi.org/10.1016/j.rhum.2022.10.381.

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Querrach, I., S. Abourazzak, M. Idrissi, et al. "LES MUCOPOLYSACCHARIDOSES TYPE I CHEZ LENFANT : DU DIAGNOSTIC AU TRAITEMENT." International Journal of Advanced Research 12, no. 11 (2024): 870–77. https://doi.org/10.21474/ijar01/19897.

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La mucopolysaccharidose de type I (MPS I) est une maladie de surcharge lysosomale, de transmission autosomique recessive. Due au deficit en α-L-iduronidase (IDUA). Les objectifs de notre etude sont : detudier les differentes caracteristiques epidemiologiques, cliniques et paracliniques des MPS I, danalyser les profils evolutifs des patients sous traitement specifique. Cest une etude retrospective descriptive associee a un suivi prospectif des malades, menee a lunite de lhopital du jour au sein de service de pediatrie du CHU Hassan II de Fes, portant sur les cas de mucopolysaccharidose type I
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Chabannes, JP. "La psychiatric française et les lois . La loi de décembre 1988 dite « Huriet» relative à la protection des personnes se prêtant à la recherche biomédicale." European Psychiatry 9, S2 (1994): 47–48. http://dx.doi.org/10.1017/s092493380000434x.

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RésuméLa loi française du 20 décembre 1988, dont le rapporteurétait le docteur Huriet, sénateur, a redéfini le cadre législatif des essais biomédicaux. Son objet, plus que de garantir la qualité scientifique d’un travail de recherche, vise à protéger les personnes - saines ou malades-qui seraient sollicitées pour participer à de tels essais. Venant se surajouter aux Bonnes Pratiques Cliniques et aux Directives Européennes qui encadrent la recherche clinique, l’application pratique de la loi Huriet, par certains de ses aspects - en particulier I’obtention du consentement et l’accès aux « docume
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Chia, Ankiambom Jude, and Henri Rodrigue Njengoué Ngamaleu. "Community Based Approach to Malaria Prevention among Pregnant Women and Children Less Than Five Years of Age in Cameroon." Research Journal of Engineering and Medical Science 1, no. 1 (2025): 30–40. https://doi.org/10.5281/zenodo.14835713.

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Malaria is a major public health concern in Cameroon which for a long time has remained the second leading cause of morbidity and mortality after HIV/AIDS, and the most widespread endemic disease in the country. Cameroon, historically has been implementing malaria prevention programs through a community based strategy from the pre-colonial era, through the independence to the post-independence period till date. Despite the adoption and implementation of the CBA in the fight against the scourge in the country which has yielded results in many countries like Cape Verte, the Mauritius Island and
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Bonakdari, H., G. Tardif, F. Abram, J. P. Pelletier, and J. Martel-Pelletier. "FRI0416 COMBINATION OF SERUM ADIPOKINES/RELATED INFLAMMATORY FACTORS AND RATIOS AS PREDICTORS OF INFRAPATELLAR FAT PAD VOLUME IN KNEE OSTEOARTHRITIS PATIENTS: USAGE OF A COMPREHENSIVE MACHINE LEARNING APPROACH." Annals of the Rheumatic Diseases 79, Suppl 1 (2020): 806.1–807. http://dx.doi.org/10.1136/annrheumdis-2020-eular.1447.

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Background:One of the hurdles in osteoarthritis (OA) drug discovery and the improvement of therapeutic approaches is the early identification of patients who will progress. It is therefore crucial to find efficient and reliable means of screening OA progressors. Although the main risk factors, age, gender and body mass index (BMI), are important, they alone are poor predictors. However, serum factors could be potential biomarkers for early prediction of knee OA progression.Objectives:In a first step toward finding early reliable predictors of OA progressors, this study aimed to determine, in O
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Trandafir, A., I. Saulescu, A. Balanescu, et al. "AB0690 HOW DID COVID-19 AFFECT PATIENTS WITH RHEUMATIC AND MUSCULOSKELETAL DISEASES TREATED WITH DMARDs – EXPERIENCE FROM A ROMANIAN RHEUMATOLOGY HOSPITAL." Annals of the Rheumatic Diseases 80, Suppl 1 (2021): 1378. http://dx.doi.org/10.1136/annrheumdis-2021-eular.3092.

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Background:Certainly, the year 2020 changed the healthcare system due to SARS-CoV2 pandemic that affected globally, more than 100 million people, causing more than 2 million of deaths worldwide. The evidence of how this infection impact patients with rheumatic and musculoskeletal diseases treated with disease modifying anti-rheumatic drugs is still an unmet need.Objectives:The main focus of this study is to evaluate the influence of DMARDs therapy on the evolution of COVID-19 disease in patients with RMDs. The second objective is to study and find correlations between the severity of infection
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Dissertations / Theses on the topic "Maladie de Hurler"

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GUICHARD, EVELYNE. "Greffes allogeniques de moelle osseuse dans les maladies de hurler, hunter et leucodystrophie metachromatique : a propos de cinq cas personnels avec revue de la litterature." Saint-Etienne, 1991. http://www.theses.fr/1991STET6234.

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Dias, Chloé. "Caractérisation des vésicules extracellulaires et étude de leur rôle dans la neuropathologie de la mucopolysaccharidose de type III." Electronic Thesis or Diss., Université de Toulouse (2023-....), 2024. http://www.theses.fr/2024TLSES084.

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La mucopolysaccharidose de type III (MPS III) ou syndrome de Sanfilippo est une maladie pédiatrique rare, d'origine génétique, dite de surcharge lysosomale (MSL) et causée par le déficit en enzymes impliquées dans la dégradation de l'héparane sulfate. Le diagnostic tardif et l'absence de traitement curatif entrainent le décès de l'enfant avant l'âge adulte. Cependant les derniers essais cliniques de thérapie génique chez des enfants atteints de MPS III de type B ont donné des résultats prometteurs. L'accumulation progressive d'oligosaccharides d'héparane sulfate (HSOs) anormaux et partiellemen
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PENNA, SARA. "Development of novel cell based therapeutic approaches to correct primary and secondary bone defects." Doctoral thesis, Università degli Studi di Milano-Bicocca, 2021. http://hdl.handle.net/10281/304794.

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Le malattie scheletriche pediatriche compromettono fortemente la durata della vita. Disturbi monogenici rari e gravi come l'osteopetrosi autosomica recessiva (ARO) e la mucopolisaccaridosi di tipo 1 Hurler (MPSIH) sono causati rispettivamente da difetti ossei primari e secondari. In particolare, i pazienti con ARO soffrono di elevata densità e fragilità ossea, difetti neurologici e fibrosi del midollo osseo che portano ad un aumento del numero di cellule CD34+ circolanti. La forma più frequente di ARO è dovuta alle mutazioni del gene TCIRG1, che codifica per una pompa protonica necessaria per
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Katchon, Cossi. "Recherche biomédicale, loi Huriet et information des malades en oncologie médicale : résultats d'une enquête nationale auprès des oncologues médicaux." Bordeaux 2, 1996. http://www.theses.fr/1996BOR2M146.

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Reymondier, Anne. "Information relative au médicament pour essai clinique." Paris 5, 1997. http://www.theses.fr/1997PA05P202.

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Book chapters on the topic "Maladie de Hurler"

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Spring, Michele, and Krisada Jongsakul. "Building Partnership Through Malaria Research in Thailand." In Sustainable Development Goals Series. Springer Nature Switzerland, 2024. https://doi.org/10.1007/978-3-031-53793-6_11.

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AbstractThe Armed Forces Research Institute of Medical Sciences (AFRIMS) is a US Department of Defense (DoD) institution under the US Embassy in Bangkok, Thailand. In partnership with the Royal Thai Army, AFRIMS has conducted in-depth malaria research for the past 60 years, with a specific focus on anti-malarial product development as well as monitoring and surveillance of product effectiveness and signs of anti-malarial drug resistance. While the primary mission is DoD-sponsored medical research to protect armed services personnel, developments and accomplishments are shared with the communit
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Mhlanga, Nikiwe, and Hendriëtte Van der Walt. "Malaria Diagnostics." In Malaria - Recent Advances, and New Perspectives [Working Title]. IntechOpen, 2022. http://dx.doi.org/10.5772/intechopen.106631.

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The imminent scenario of malaria burden on endemic regions burdens healthcare and is a threat to non-endemic regions. Microscopy and rapid diagnostic tests (RDTs) remain the gold standard for malaria detection in resource-constrained regions. They still present low sensitivity at low parasite density, however, with microscopy also requiring trained personnel, expensive and time consuming. Affordable, rapid, specific, sensitive and simple malaria diagnostics remain elusive. Molecular-based diagnostics, polymerase chain reaction and loop-mediated isothermal amplification, although highly sensiti
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Kaponda, Tendai, and Option Takunda Chiwaridzo. "Empowering Smallholder Farmers Through Community-Based Marketing Initiatives in Promoting Sustainable Agriculture." In Emerging Technologies and Marketing Strategies for Sustainable Agriculture. IGI Global, 2024. http://dx.doi.org/10.4018/979-8-3693-4864-2.ch006.

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This review paints a nuanced picture of community-based marketing initiatives (CBMIs) in Zimbabwe, Malawi, and South Africa, highlighting their potential to empower smallholder farmers and contribute to sustainable agriculture. Diverse organisational structures, from centralised models offering efficiency to decentralised ones fostering ownership, provide pathways to market access, fair prices, and reduced dependence on intermediaries. Initiatives like Mbare Musika Market, Blantyre Farmers Market, and Farm in the Veld exemplify this potential, connecting farmers directly to consumers and promo
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Sahoo, Bimal Kumar, Mahesh Pathak, Sushruta Boruah, and Kasturi Sarmah. "BIO-ENGINEERED DEFENDERS: CRISPR-CAS9 UNLEASHING DISEASE-RESISTANT INSECTS TO CURB VECTOR-BORNE DISEASES." In Futuristic Trends in Agriculture Engineering & Food Sciences Volume 3 Book 6. Iterative International Publisher, Selfypage Developers Pvt Ltd, 2024. http://dx.doi.org/10.58532/v3bcag6p1ch5.

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Vector-borne diseases, such as malaria, dengue fever, and Zika virus, continue to pose significant threats to global public health. Conventional vector control methods often face challenges due to insecticide resistance and unintended ecological consequences. The emergence of the CRISPR-Cas9 gene editing technology offers a groundbreaking opportunity to combat vector-borne diseases through the creation of disease-resistant insects. In this paper, the current state of research and prospects in utilizing CRISPR-Cas9 to engineer insect populations for disease resistance are reviewed. The successe
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