The advantages of rare disease biobanking: A localised source of genetic knowledge to benefit the South African rare disease community and related stakeholders worldwide by M Dercksen, E H Conradie, C J Hendriksz, H Malherbe, B C Vorster

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Defective Slc7a7 transport reduces erythropoietin compromising erythropoiesis by Judith Giroud-Gerbetant, Fernando Sotillo, Gonzalo Hernández, Irene Ruano, David Sebastián, Joana Fort, Mayka Sánchez, Günter Weiss, Neus Prats, Antonio Zorzano, Manuel Palacín, Susanna Bodoy

Subjects: “…Rare disease…”
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Ontology-based expansion of virtual gene panels to improve diagnostic efficiency for rare genetic diseases by Jaemoon Shin, Toyofumi Fujiwara, Hirotomo Saitsu, Atsuko Yamaguchi

Subjects: “…Rare disease…”
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The parental care-seeking behavior of children with osteogenesis imperfecta based on the Anderson’s model: a qualitative study by Lin Mo, Fan-yan Du

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Management of rare and undiagnosed diseases: insights from researchers and healthcare professionals in Türkiye by Sinem Durmus, Emrah Yucesan, Sinem Aktug, Begum Utz, Ahmet Okay Caglayan, Ahmet Okay Caglayan, Pinar Gencpinar, Cagatay Günay, Yavuz Oktay, Ravza Nur Yildirim, Ayca Yigit, Ugur Ozbek

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Drug repurposing screen for the rare disease ataxia-telangiectasia by Namrata Jayanth, Gurvan Mahé, Matthew Campbell, Mike Lipkin, Shushant Jain, Rhea van de Bospoort, Jennifer Thornton, Brad Margus, David F. Fischer

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Progress in Clinical Diagnosis and Management of Short Stature in Ehlers-Danlos Syndromes by XU Kexin, LI Guozhuang, WU Zhihong, ZHANG Jianguo, DISCO(Deciphering Disorders Involving Scoliosis & Comorbidities) Study Group, WU Nan

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Clinical phenotype and trio whole exome sequencing data from a patient with glycogen storage disease IV in Indonesia(NCBI) by Ivan William Harsono, Yulia Ariani, Beben Benyamin, Fadilah Fadilah, Dwi Ari Pujianto, Cut Nurul Hafifah, Titis Prawitasari

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A proposed conceptual model for orphan drug market entry by Nataša Jalen, Tina Vukasović

Subjects: “…marketing model, marketing strategy, rare disease, health technology assessment, orphan drug, grounded theory…”
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Relevance of superoxide dismutase type 1 to lipoid pneumonia: the first retrospective case-control study by Yinan Hu, Yanhong Ren, Yinzhen Han, Zhen Li, Weiqing Meng, Yuhui Qiang, Mengyuan Liu, Huaping Dai

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Ultra-rare Disease and Genomics-Driven Precision Medicine by Sangmoon Lee, Murim Choi

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Identification of strengths and weaknesses of the healthcare system for persons living with rare diseases in Catalonia (Spain), and recommendations to improve its comprehensive att... by José Hernández-Rodríguez, Fernando Martínez-Valle, Xènia Acebes, Carmen Alerany, Jordi Antón, Gonzalo Calvo, Marian Corral, Jordi Cruz, M. Antònia Mangues-Bafalluy, José Mateo, Josefa Rivera, Albert Salazar, Roser Francisco, Cristina Mallol, Rita Reig-Viader, Ariadna Tigri-Santiña, Assumpta Ricart, Francesc Palau

Subjects: “…Rare diseases…”
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Epigene functional diversity: isoform usage, disordered domain content, and variable binding partners by Leroy Bondhus, Aileen A. Nava, Isabelle S. Liu, Valerie A. Arboleda

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A proof-of-concept study of extracting patient histories for rare/intractable diseases from social media by Atsuko Yamaguchi, Núria Queralt-Rosinach

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The impact of COVID-19 on patients affected by rare diseases and congenital disorders in South Africa: A scoping review by M C M Gomes, H L Malherbe

Subjects: “…rare diseases…”
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Parathyroid carcinoma and pheochromocytoma in a patient with neurofibromatosis type 1: a rare association by Jardelina Brena Rocha Leite, Nicole Ramalho De Freitas, Rafaella Nelice de Holanda Cardoso, Erik Trovão Diniz, Gabriel Rodrigues de Assis Ferreira, Fernão Henrique Costa e Alvim, Camila Ribeiro Coutinho Madruga, Ana Carolina Thé Garrido, Luciano Albuquerque, Patricia Sampaio Gadelha, Ruy Lyra, Lucio Vilar

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Stress and anxiety among caregivers of adult patients with Niemann-Pick Type C disease by Izabela Dawidowska-Nowak, Joanna Biegańska-Banaś, Beata Kieć-Wilk

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The implementation of genome sequencing in rare genetic diseases diagnosis: a pilot study from the Hong Kong genome projectResearch in context by Wai Kei Jacky Lam, Chak Sing Lau, Ho Ming Luk, Lisa Wing Chi Au, Gary C.P. Chan, Will Yap Hang Chan, Shirley Sze Wing Cheng, Timothy Hua Tse Cheng, Li Li Cheung, Yiu Fai Cheung, Josephine Shuk Ching Chong, Annie Tsz Wai Chu, Claudia Ching Yan Chung, Kin Lai Chung, Cheuk Wing Fung, Eva Lai Wah Fung, Yuan Gao, Stephanie Ho, Shirley Pik Ying Hue, Chi-Ho Lee, Tsz Leung Lee, Philip Hei Li, Hei Man Lo, Ivan Fai Man Lo, Herbert Ho Fung Loong, Becky Mingyao Ma, Wei Ma, Shirley Yin Yu Pang, Wai-Kay Seto, Steven Wai Kwan Siu, Ho So, Yuk Him Tam, Wenshu Tang, Rosanna Ming Sum Wong, Desmond Yat Hin Yap, Maggie Lo Yee Yau, Brian Hon Yin Chung, Su-Vui Lo

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Value contribution of leniolisib in the Treatment of Activated PI3Kδ syndrome (APDS) in Spain using Multi-Criteria Decision Analysis (MCDA) by María Reyes Abad, Carmen Alerany, Luis Ignacio Gonzalez, Olaf Neth, Concepción Payares-Herrera, Carlos Rodríguez-Gallego, Jose Luis Trillo, Kirsten H. Herrmann, Raquel Figueiredo, Alicia Gil

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Enriched phenotypes in rare variant carriers suggest pathogenic mechanisms in rare disease patients by Lane Fitzsimmons, Undiagnosed Diseases Network, Brett Beaulieu-Jones, Shilpa Nadimpalli Kobren

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