SUBJECTS : Rare Diseases | Orphan Drug
LATEST MANUSCRIPTS IN Orphanet Journal of Rare Diseases
- Marwa Al Busaidi, Feda E Mohamed, Eiman Al-Ajmi, Nadia Al Hashmi, Khalid Al-Thihli, Amna Al Futaisi, Watfa Al Mamari, Fathiya Al-Murshedi, Fatma Al-Jasmi. Expanding the clinical spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency: novel PCK1 variants in four Arabian Gulf families. Orphanet journal of rare diseases. 2023, 18 (1): 344
Cited : 0Read More - Thibaud Damy, Guillaume Bourel, Michel Slama, Vincent Algalarrondo, Olivier Lairez, Pauline Fournier, Jérôme Costa, Françoise Pelcot, Agnès Farrugia, Isabelle Durand Zaleski, Hervé Lilliu, Caroline Rault, Mathilde Bartoli, Stéphane Fievez, Anna Granghaud, Jeremie Rudant, Agathe Coste, Charlotte Noirot Cosson, Pierre-Alexandre Squara, Marion Narbeburu, Bertrand De Neuville, Philippe Charron. Incidence and survival of transthyretin amyloid cardiomyopathy from a French nationwide study of in- and out-patient databases. Orphanet journal of rare diseases. 2023, 18 (1): 345Cited : 4Read More
- Line Kenborg, Line E Frederiksen, Michael Galanakis, Karoline Doser, Thomas T Nielsen, Mia Aagaard Doherty, Hanne Hove, John R Østergaard, Mette M Handrup, Cecilie Ejerskov, John J Mulvihill, Jeanette F Winther. Employment, occupation, and income in adults with neurofibromatosis 1 in Denmark: a population- and register-based cohort study. Orphanet journal of rare diseases. 2023, 18 (1): 346Cited : 1Read More
- Huaijie Wang, Chong Xie, Weilong Lin, Peihua Wang, Weijia Yang, Zhengtuan Guo. Fibro-adipose vascular anomaly (FAVA) - diagnosis, staging and management. Orphanet journal of rare diseases. 2023, 18 (1): 347Cited : 2Read More
- Ela Curic, Lisa Ewans, Ryan Pysar, Fulya Taylan, Lorenzo D Botto, Ann Nordgren, William Gahl, Elizabeth Emma Palmer. International Undiagnosed Diseases Programs (UDPs): components and outcomes. Orphanet journal of rare diseases. 2023, 18 (1): 348Cited : 2Read More
- D Mammadova, J Vecko, M Hofmann, S C Schüssler, L Deiters, A Canda, A K Wieland, S Gollwitzer, H Hamer, Regina Trollmann. A single-center observational study on long-term neurodevelopmental outcomes in children with tuberous sclerosis complex. Orphanet journal of rare diseases. 2023, 18 (1): 349Cited : 2Read More
- Luca Gentile, Teresa Coelho, Angela Dispenzieri, Isabel Conceição, Márcia Waddington-Cruz, Arnt Kristen, Jonas Wixner, Igor Diemberger, Juan Gonzalez-Moreno, Eve Cariou, Mathew S Maurer, Violaine Planté-Bordeneuve, Pablo Garcia-Pavia, Ivailo Tournev, Jose Gonzalez-Costello, Alejandra Gonzalez Duarte, Martha Grogan, Anna Mazzeo, Doug Chapman, Pritam Gupta, Oliver Glass, Leslie Amass, . A 15-year consolidated overview of data in over 6000 patients from the Transthyretin Amyloidosis Outcomes Survey (THAOS). Orphanet journal of rare diseases. 2023, 18 (1): 350Cited : 5Read More
- Rai-Hseng Hsu, Ni-Chung Lee, Hui-An Chen, Wuh-Liang Hwu, Tung-Ming Chang, Yin-Hsiu Chien. Late-onset symptomatic hyperprolactinemia in 6-pyruvoyl-tetrahydropterin synthase deficiency. Orphanet journal of rare diseases. 2023, 18 (1): 351Cited : 1Read More
- Aina Gayà-Barroso, Juan González-Moreno, Adrián Rodríguez, Tomás Ripoll-Vera, Inés Losada-López, Margarita Gili, Milena Paneque, Sara Pérez-Martínez, Eugenia Cisneros-Barroso. Occupational practice in patients with hereditary transthyretin amyloidosis, a qualitative study. Orphanet journal of rare diseases. 2023, 18 (1): 352Cited : 0Read More
- Chuanxin Duan, Wangji Zhou, Miaoyan Zhang, Chongsheng Cheng, Wenshuai Xu, Jinrong Dai, Shuzhen Meng, Keqi Chen, Yang Zhao, Song Liu, Shao-Ting Wang, Yanli Yang, Kai-Feng Xu, Xinlun Tian. Effects of COVID-19 infection in patients with autoimmune pulmonary alveolar proteinosis: a single-center study. Orphanet journal of rare diseases. 2023, 18 (1): 353Cited : 0Read More
- Anne Lørup Lyster, Signe Hedengran Biørn, Anette Drøhse Kjeldsen, Christian Nielsen, Bibi Lange, Annette Dam Fialla, Pernille Just Vinholt. The bleeding diathesis in patients with hereditary haemorrhagic telangiectasia is not due to impaired platelet function. Orphanet journal of rare diseases. 2023, 18 (1): 354Cited : 1Read More
- Jesse D Moreira, Karan K Smith, Sophia Zilber, Kasey Woleben, Jessica L Fetterman. Teamwork makes the dream work: functional collaborations between families, scientists, and healthcare providers to drive progress in the treatment of Leigh Syndrome. Orphanet journal of rare diseases. 2023, 18 (1): 355Cited : 1Read More
- Feng Lin, Kang Yang, Xin Lin, Ming Jin, Long Chen, Fu-Ze Zheng, Liang-Liang Qiu, Zhi-Xian Ye, Hai-Zhu Chen, Min-Ting Lin, Ning Wang, Zhi-Qiang Wang. Clinical features, imaging findings and molecular data of limb-girdle muscular dystrophies in a cohort of Chinese patients. Orphanet journal of rare diseases. 2023, 18 (1): 356Cited : 4Read More
- Joseph Muenzer, Barbara K Burton, Hernan M Amartino, Paul R Harmatz, Luis González Gutiérrez-Solana, Matilde Ruiz-Garcia, Yuna Wu, David Merberg, David Alexanderian, Simon A Jones. Neurodevelopmental status and adaptive behavior of pediatric patients with mucopolysaccharidosis II: a longitudinal observational study. Orphanet journal of rare diseases. 2023, 18 (1): 357Cited : 3Read More
- Vincenza Gragnaniello, Daniela Gueraldi, Andrea Puma, Anna Commone, Chiara Cazzorla, Christian Loro, Elena Porcù, Maria Stornaiuolo, Paolo Miglioranza, Leonardo Salviati, Ronald J A Wanders, Alberto Burlina. Abnormal activation of MAPKs pathways and inhibition of autophagy in a group of patients with Zellweger spectrum disorders and X-linked adrenoleukodystrophy. Orphanet journal of rare diseases. 2023, 18 (1): 358Cited : 0Read More
