Fabry disease – what a gastroenterologist should know by Alicja Rydzewska-Rosołowska, Tomasz Hryszko

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Let’s not Miss the Opportunity to Improve Rare Disease Reporting Through ICD-11 Implementation by Miroslav ZVOLSKÝ, Šárka DAŇKOVÁ, Marie VIKDAL, Carine ALSOKHN, Robert JAKOB, Milan BLAHA

Subjects: “…Rare diseases…”
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Informatics Consideration on the Hierarchical System of Rare Diseases Clinical Care in China by GONG Mengchun, GUO Yanying, ZHENG Xihong, FAN Junkang, LIU Peng, NIU Ling, YANG Yining, ZOU Xiaoguang

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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Reform and Development of Rare Diseases Drug Evaluation and Approval in China by HUANG Guo, YANG Zhimin, TANG Ling, ZHANG Jie, AI Xing, SE RI Geleng, ZHAO Tian

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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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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Choosing preferable labels for the Japanese translation of the Human Phenotype Ontology by Kota Ninomiya, Terue Takatsuki, Tatsuya Kushida, Yasunori Yamamoto, Soichi Ogishima

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Disproportionate adverse event signals of selumetinib in neurofibromatosis type I: insights from FAERS by Lin Li

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Human-based complex in vitro models: their promise and potential for rare disease therapeutics by Surat Parvatam, Francesca Pistollato, Lindsay J. Marshall, Fabia Furtmann, Devashree Jahagirdar, Mohua Chakraborty Choudhury, Sujata Mohanty, Harshita Mittal, Saveetha Meganathan, Rakesh Mishra

Subjects: “…rare diseases…”
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A Case Report of Aicardi-Goutières Syndrome Type 7 Caused by IFIH1 Gene Mutation and a Literature Review by ZHAO Min, SHU Zhou, HAN Tongxin, FU Yanhua, GAO Tianji, MAO Huawei

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Is It Time Alpha-1 Antitrypsin Deficiency Had a Specific Patient Reported Outcome Measure? A Review by De Soyza J, Chien HY, Onasanya AA, Turner AM

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Reversal gene expression assessment for drug repurposing, a case study of glioblastoma by Shixue Sun, Zeenat Shyr, Kathleen McDaniel, Yuhong Fang, Dingyin Tao, Catherine Z. Chen, Wei Zheng, Qian Zhu

Subjects: “…Rare diseases…”
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A genomic strategy for precision medicine in rare diseases: integrating customized algorithms into clinical practice by Cristina Méndez-Vidal, Nereida Bravo-Gil, Javier Pérez-Florido, Irene Marcos-Luque, Raquel M. Fernández, José Luis Fernández-Rueda, María González-del Pozo, Marta Martín-Sánchez, Elena Fernández-Suárez, Marcela Mena, Rosario Carmona, Joaquín Dopazo, Salud Borrego, Guillermo Antiñolo

Subjects: “…Rare diseases…”
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A machine learning model accurately identifies glycogen storage disease Ia patients based on plasma acylcarnitine profiles by Joost Groen, Bas M. de Haan, Ruben J. Overduin, Andrea B. Haijer-Schreuder, Terry GJ Derks, M. Rebecca Heiner-Fokkema

Subjects: “…Rare diseases…”
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Quantifying hope: an EU perspective of rare disease therapeutic space and market dynamics by Emmanuelle Cacoub, Emmanuelle Cacoub, Nathalie Barreto Lefebvre, Dimitrije Milunov, Manish Sarkar, Soham Saha

Subjects: “…rare diseases…”
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