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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Researchposted Jan 14, 2021
Quantitative Evaluation of Upright Posture by X-Ray and 3D Stereophotogrammetry With an Original Marker Placement Protocol in Late Onset Pompe Disease.
Paolo De Blasiis, Allegra Fullin, Mario Sansone, Luca Del Viscovo, Filomena Napolitano, Chiara Terracciano, Giacomo Lus, and 2 more authors
Under Review
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Researchposted Jan 14, 2021
Etoposide as an Effective Drug for Adult Macrophage Activation Syndrome: A Retrospective Study
Lingbo He, Zhili Jin, Menghan Liu, Tingting Cui, Lin Wu, Zhao Wang, Yini Wang
Under Review
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Researchposted Jan 14, 2021
Impacts and Burden of Niemann Pick Type-C: A Patient and Caregiver Perspective
Eugen Mengel, Marc C Patterson, Michael Chladek, Christina Guldberg, Christine íDali, Tara Symonds, Lucy Lloyd-Price, and 3 more authors
Under Review
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Researchposted Jan 14, 2021
A Twins Case of Lissencephaly With GPR56 Compound Heterozygous Mutations and Literatures Review
Wenxin Lin, Yingying Chai, Xia Zhang, Tingting Huang, Guo Zheng, Gang Zhang, Fang Peng, and 1 more authors
Under Review
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Researchupdated Jan 12, 2021
Musculo-skeletal phenotype of Costello syndrome and cardio-facio-cutaneous syndrome: insights on the functional assessment status
Chiara Leoni, Domenico M Romeo, Pelliccioni Michele, Di Già Mariangela, Onesimo Roberta, Giorgio Valentina, Flex Elisabetta, and 5 more authors
Under Review
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