Researchposted Jan 20, 2021
Improving Early Diagnosis of Rare Diseases Using Natural Language Processing in Unstructured Medical Records: An Illustration From Dravet Syndrome
Tommaso Lo Barco, Mathieu Kuchenbuch, Nicolas Garcelon, Antoine Neuraz, Rima Nabbout
Under Review
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Researchposted Jan 19, 2021
Carrier Frequency and Incidence Estimation of Smith–Lemli–Opitz syndrome in East Asian Populations by Genome Aggregation Database (gnomAD) Based Analysis
Jong Eun Park, Taeheon Lee, Kyeongsu Ha, Chang-Seok Ki
Under Review
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Researchposted Jan 19, 2021
Chloroquine Decreases Cardiomyocyte Autophagy and Improves Cardiac Function in a Mouse Model of Duchenne Muscular Dystrophy
Takaya Hirata, Shiro Baba, Kentaro Akagi, Daisuke Yoshinaga, Katsutsugu Umeda, Souichi Adachi, Toshio Heike, and 1 more authors
Under Review
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Researchupdated Jan 18, 2021
Belgian rare diseases plan in clinical pathology: identification of key biochemical diagnostic tests and establishment of reference laboratories and financing conditions
Nathalie Monique Vandevelde, Pieter Vermeersch, Katrien M.J. Devreese, Marie-Françoise Vincent, Béatrice Gulbis, François Eyskens, François Boemer, and 14 more authors
Under Review
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Researchupdated Jan 18, 2021
Assessment of tuberous sclerosis-associated neuropsychiatric disorders using the MINI-KID tool: a pediatric cohort study
Yifeng Ding, Ji Wang, Hao Zhou, Taoli Li, Shuizhen Zhou, Yi Wang
Under Review
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Researchupdated Jan 15, 2021
Patient and family experience with Transthyretin Amyloid Cardiomyopathy (ATTR-CM) and Polyneuropathy (ATTR-PN) Amyloidosis: Results of two focus groups
David Rintell, Dena Heath, Florencia Braga Menendez, Elizabeth Cross, Theodore Cross, Vincent Knobell, Bruno Gagnon, and 4 more authors
Under Review
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Researchupdated Jan 15, 2021
Changes in PCSK 9 and Apolipoprotein B100 in Niemann-Pick Disease After Enzyme Replacement Therapy with Olipudase Alfa
Bethanie Garside, Jan Hoong Ho, See Kwok, Yifen Liu, Shaishav Dhage, Rachelle Donn, Zohaib Iqbal, and 2 more authors
Under Review
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Researchupdated Jan 15, 2021
Release of pseudosyndactyly in recessive dystrophic epidermolysis bullosa using a dermal regeneration template glove – the Foggia experience.
Fedele Lembo, Domenico Parisi, Liberato Roberto Cecchinov, Francesco Ciancio, Alessandro Innocenti, Aurelio Portincasa
Under Review
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Researchupdated Jan 15, 2021
Results of a Patient Reported Experience Measure (PREM) to measure the rare disease patients and caregivers experience: A Spanish cross-sectional study
Mercedes Guilabert Mora, Alba Martínez-García, Marina Sala-González, Olga Solas, José Joaquín Mira
Under Review
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Researchposted Jan 14, 2021
Mutation Profile of Collagen VI-Related Myopathy in Japan
Michio Inoue, Yoshihiko Saito, Takahiro Yonekawa, Megumu Ogawa, Aritoshi Iida, Ichizo Nishino, Satoru Noguchi
Under Review
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