Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Aime Lumaka"'
Autor:
Ryan Taft, Erin Thorpe, John Belmont, Taylor Williams, Chad Shaw, Jason Button, Julia Ortega, Keisha Robinson, Marilyn Jones, Diane Masser-Frye, Donald Basel, Chester Brown, Keith Vaux, Aime Lumaka, Fabio Sirchia, Milagros Dueñas Roque, Mario Cornejo-Olivas, Jeny Bazalar-Montoya, Nora Urraca, Alejandra Salguero, Samuel Wiafe, Romina Foster-Bonds, Erin Royer, Michelle Gallas, Pilar Magoulas, Adeline Vanderver, Marwan Shinawi, Alan Taylor, Kristen Fishler, Duncan Henry, Daria Salyakina, Kate Gibson, Melissa Lah, Alka Malhotra, James Avecilla, Andrew Warren, Denise Perry, Max Arseneault
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100464- (2023)
Externí odkaz:
https://doaj.org/article/60395c8cc41f4f2ab8ff392328671d78
Autor:
Brittany Thomas, Akanchha Kesari, Aime Lumaka, Mario Cornejo-Olivas, David Ward, Parul Jayakar, Donald Basel, Marilyn Jones, Erin Thorpe, Denise Perry, Ryan Taft
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100619- (2023)
Externí odkaz:
https://doaj.org/article/1747b6b0918d4f9a98f666555947576a
Akademický článek
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Autor:
Paul Lumbala Kabuyi, Gloire Mbayabo, Mamy Ngole, Aimé Lumaka Zola, Valerie Race, Gert Matthijs, Chris Van Geet, Prosper Lukusa Tshilobo, Koenraad Devriendt, Tite Minga Mikobi
Publikováno v:
eJHaem, Vol 4, Iss 3, Pp 595-601 (2023)
Abstract Background: Despite a high incidence of sickle cell anemia, hydroxyurea (HU) treatment is rarely used in the DR Congo. This study aims to assess the efficacy of HU, the incidence of side effects that may limit its use in adults and to determ
Externí odkaz:
https://doaj.org/article/dab20ddfd3a84212b5cada2b70d7092d
Autor:
Yannick Nlandu, Jean-Robert Makulo, Marie Essig, Ernest Sumaili, Aimé Lumaka, Yannick Engole, Marie-France Mboliasa, Vieux Mokoli, Trésor Tshiswaka, Aliocha Nkodila, Justine Bukabau, Augustin Longo, François Kajingulu, Chantal Zinga, Nazaire Nseka
Publikováno v:
Renal Failure, Vol 45, Iss 2 (2023)
Introduction Acute kidney injury (AKI) is a complication of severe coronavirus disease 2019 (COVID-19). Kidney damage associated with COVID-19 could take specific features due to environmental and socio-cultural factors. This study evaluates the inci
Externí odkaz:
https://doaj.org/article/a7a72b9117f34d139db8ff76db0f7a7f
Autor:
Gloire Mbayabo, Mamy Ngole, Paul Kabuyi Lumbala, Aimé Lumaka, Valerie Race, Gert Matthijs, Tite Minga Mikobi, Koenraad Devriendt, Chris Van Geet, Prosper Tshilobo Lukusa
Publikováno v:
Hematology, Vol 28, Iss 1 (2023)
ABSTRACTBackground: Sickle Cell Anemia (SCA) is the most common genetic disease worldwide caused by a single mutation in the gene HBB. The disease severity is very variable and depends on many factors. We evaluated the clinical and biological profile
Externí odkaz:
https://doaj.org/article/34f2e67d7afd4d9691ea584959c2579a
Autor:
Savino Sciascia, Dario Roccatello, Marco Salvatore, Claudio Carta, Laura L. Cellai, Gianluca Ferrari, Aimè Lumaka, Stephen Groft, Yasemin Alanay, Maleeha Azam, Gareth Baynam, Helene Cederroth, Eva Maria Cutiongco-de la Paz, Vajira Harshadeva Weerabaddana Dissanayake, Roberto Giugliani, Claudia Gonzaga-Jauregui, Dineshani Hettiarachchi, Oleg Kvlividze, Guida Landoure, Prince Makay, Béla Melegh, Ugur Ozbek, Ratna Dua Puri, Vanessa I. Romero, Vinod Scaria, Saumya S. Jamuar, Vorasuk Shotelersuk, William A. Gahl, Samuel A. Wiafe, Olaf Bodamer, Manuel Posada, Domenica Taruscio
Publikováno v:
Frontiers in Public Health, Vol 11 (2023)
BackgroundPatients, families, the healthcare system, and society as a whole are all significantly impacted by rare diseases (RDs). According to various classifications, there are currently up to 9,000 different rare diseases that have been recognized
Externí odkaz:
https://doaj.org/article/da71af76c6954864ad49d713a5a8c259
Publikováno v:
Global Medical Genetics, Vol 10, Iss 01, Pp 001-005 (2023)
Background Lynch syndrome (LS) is an autosomal dominant condition due to the germline mutation in the mismatch repair (MMR) genes including MLH1, MSH2, MSH6, and PMS2 (post-meiotic segregation increased 2). The MMR mutation carriers have high risk fo
Externí odkaz:
https://doaj.org/article/ff247c6dc8c14d4596d3d1046332de02
Autor:
Aimé Lumaka, Nadia Carstens, Koenraad Devriendt, Amanda Krause, Benard Kulohoma, Judit Kumuthini, Gerrye Mubungu, John Mukisa, Melissa Nel, Timothy O. Olanrewaju, Zané Lombard, Guida Landouré, as members of the Rare Disease Working Group of the H3Africa Consortium
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-6 (2022)
Abstract The rich and diverse genomics of African populations is significantly underrepresented in reference and in disease-associated databases. This renders interpreting the Next Generation Sequencing (NGS) data and reaching a diagnostic more diffi
Externí odkaz:
https://doaj.org/article/c0954aa3cc6e43369b949ba24f84d6e5
Autor:
Domenica Taruscio, Marco Salvatore, Aimè Lumaka, Claudio Carta, Laura L. Cellai, Gianluca Ferrari, Savino Sciascia, Stephen Groft, Yasemin Alanay, Maleeha Azam, Gareth Baynam, Helene Cederroth, Eva Maria Cutiongco-de la Paz, Vajira Harshadeva Weerabaddana Dissanayake, Roberto Giugliani, Claudia Gonzaga-Jauregui, Dineshani Hettiarachchi, Oleg Kvlividze, Guida Landoure, Prince Makay, Béla Melegh, Ugur Ozbek, Ratna Dua Puri, Vanessa Romero, Vinod Scaria, Saumya S. Jamuar, Vorasuk Shotelersuk, Dario Roccatello, William A. Gahl, Samuel A. Wiafe, Olaf Bodamer, Manuel Posada
Publikováno v:
Frontiers in Public Health, Vol 11 (2023)
IntroductionRare diseases (RD) are a health priority worldwide, overall affecting hundreds of millions of people globally. Early and accurate diagnosis is essential to support clinical care but remains challenging in many countries, especially the lo
Externí odkaz:
https://doaj.org/article/2227df40187d4d7eabf002601c80d926