SUBJECTS : Rare Diseases | Genetics | Clinical Medicine | | Medicin
LATEST MANUSCRIPTS IN Therapeutic Advances in Rare Disease
- Faizal Z Asumda, Jessica A Kraker, Sarah C Thomas, Joseph Maleszewski, Edwin M Stone, Brendan C Lanpher, Lisa A Schimmenti. Left-sided valvular heart disease and retinopathy in a 38-year-old woman with attenuated mucopolysaccharidosis: a case report. Therapeutic advances in rare disease. 2023, 4: 26330040221145945
Cited : 0Read More - Silvia Radenkovic, Christin Johnsen, Andreas Schulze, Gurnoor Lail, Laura Guilder, Kaitlin Schwartz, Matthew Schultz, Saadet Mercimek-Andrews, Suzanne Boyer, Eva Morava. Novel insights into the phenotype and long-term D-gal treatment in PGM1-CDG: a case series. Therapeutic advances in rare disease. 2023, 4: 26330040221150269Cited : 2Read More
- James T Kwan, Erin Lanzo, David J Ramsey, Aarti Kalra, Geetha K Athappilly-Rolfe. Papilledema and retinopathy lead to diagnosis of IgA nephropathy: a case report. Therapeutic advances in rare disease. 2023, 4: 26330040231152957Cited : 0Read More
- Pankti Haria, Vinayak Kedage, Pradnya Dalvi, Satyen Sanghavi, Parvathi Chandran. Successful combined umbilical cord blood and bone marrow transplantation from an HLA-matched sibling for MPS VI: a case report. Therapeutic advances in rare disease. 2023, 4: 26330040231154283Cited : 1Read More
- Benjamin L Hamel, Seema Kumar, Leah Heidenreich, Avni Joshi, Christiana DaSilva, Faizal Z Asumda. A novel case of homozygous PAX1 mutation associated with hypoparathyroidism. Therapeutic advances in rare disease. 2023, 4: 26330040231158776Cited : 1Read More
- Amy M Patterson, Megan O'Boyle, Grace E VanNoy, Kira A Dies. Emerging roles and opportunities for rare disease patient advocacy groups. Therapeutic advances in rare disease. 2023, 4: 26330040231164425Cited : 7Read More
- Mona Kenani, Rafaa Babgi, Sultan Bakri. Bulbar conjunctival plexiform schwannoma in a 5-year-old patient; expect the unexpected! Therapeutic advances in rare disease. 2023, 4: 26330040231178321Cited : 1Read More
- Mirna Chehade, Glenn Furuta, Amy Klion, J Pablo Abonia, Seema Aceves, Paroma Bose, Margaret H Collins, Carla Davis, Evan S Dellon, Grant Eickel, Gary Falk, Sandeep Gupta, Girish Hiremath, Amari Howard, Elizabeth T Jensen, Susamita Kesh, Paneez Khoury, Kendra Kocher, Ellyn Kodroff, Shay Kyle, NaDea Mak, Dawn McCoy, Pooja Mehta, Paul Menard-Katcher, Vincent Mukkada, Ally Paliana, Marc Rothenberg, Kathleen Sable, Cara Schmitt, Melissa Scott, Jonathan Spergel, Mary Jo Strobel, Joshua B Wechsler, Gua. Enhancing diversity, equity, inclusion, and accessibility in eosinophilic gastrointestinal disease research: the consortium for eosinophilic gastrointestinal disease researchers' journey. Therapeutic advances in rare disease. 2023, 4: 26330040231180895Cited : 3Read More
- Zoë J Frazier, Eurnestine Brown, Shira Rockowitz, Ted Lee, Bo Zhang, Abigail Sveden, Nancy L Chamberlin, Kira A Dies, Annapurna Poduri, Piotr Sliz, Maya Chopra. Toward representative genomic research: the children's rare disease cohorts experience. Therapeutic advances in rare disease. 2023, 4: 26330040231181406Cited : 4Read More
- Iwens Moreira de Faria, Augusto Machado de Souza, Luiz Rodrigues Pereira Júnior, Gabriel Gomes Vieira Ribeiro Leite. Surgical resection therapy of a rare presentation of persistent Mullerian duct syndrome: a case review. Therapeutic advances in rare disease. 2023, 4: 26330040231184484Cited : 0Read More
- Katherine L Beaverson, Daria Julkowska, Mary Catherine V Letinturier, Annemieke Aartsma-Rus, Jennifer Austin, Juan Bueren, Simon Frost, Misako Hamamura, Jane Larkindale, Greg LaRosa, Rita Magenheim, Annamaria Merico, Anna Maria Gerdina Pasmooij, Vinciane Pirard, Nicholas Ekow Thomford, Michihiko Wada, Durhane Wong-Rieger, Adam L Hartman. The IRDiRC Chrysalis Task Force: making rare disease research attractive to companies. Therapeutic advances in rare disease. 2023, 4: 26330040231188979Cited : 2Read More
- Carol Wang, David Erick Elkowitz, Michael John Esposito, Rakesh Dinesh Shah, Henry Tannous, Maria-Louise Barilla-Labarca, Nagashree Seetharamu. A multidisciplinary approach to treating a unique case of recurrent metastatic thymic carcinoma: case report. Therapeutic advances in rare disease. 2023, 4: 26330040231190661Cited : 1Read More
- Kimia Yavari, Joseph Grisanti. Case report on the use of canakinumab for treatment of recurrent fevers and proteinuria in refractory systemic lupus erythematosus. Therapeutic advances in rare disease. 2023, 4: 26330040231191141Cited : 0Read More
- Stephanie Feleus, Maaike van der Lee, Jesse J Swen, Raymund A C Roos, Susanne T de Bot. Study protocol of the HD-MED study aiming to personalize drug treatment in Huntington's disease: a longitudinal, observational study to assess medication use and efficacy in relation to pharmacogenetics. Therapeutic advances in rare disease. 2023, 4: 26330040231204643Cited : 0Read More
- Janet Sultana, Nikita Camilleri, Salvatore Crisafulli, John Joseph Borg, Silvan Spagnol, Silvia Tillati, Joseph Borg. The pharmacological treatment of granulomatosis with polyangiitis: a review of clinical trials registered in clinicaltrials.gov and the International Clinical Trials Registry Platform. Therapeutic advances in rare disease. 2023, 4: 26330040231213888Cited : 1Read More
