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Researchposted Dec 05, 2019
Physical activity and exercise interventions for people with rare neurological disorders: a scoping review of systematic reviews
Valentina Buscemi, Annette Boaz, Helen Dawes, Thomas Jaki, Fiona Jones, Rachel Lowe, Jonathan Marsden, and 7 more authors
Under Review
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Researchposted Dec 03, 2019
Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations.
Dita Musalkova, Filip Majer, Ladislav Kuchar, Ondrej Luksan, Befekadu Asfaw, Hana Vlaskova, Gabriela Storkanova, and 10 more authors
Under Review
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Researchposted Dec 03, 2019
Dried blood spot versus venous blood sampling for phenylalanine and tyrosine: a large difference?
Kimber van Vliet, Wiggert G. van Ginkel, Esther van Dam, Pim de Blaauw, Martijn Koehorst, Hermi A. Kingma, Francjan J. van Spronsen, and 1 more authors
Under Review
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Researchposted Dec 03, 2019
Identification of Four New Mutations in Chilean Patients with Various Forms of Maple Syrup Urine Disease and Genotype-Phenotype Correlations
Diana Ruffato Resende Campanholi, Ana Vitoria Barban Margutti, Wilson Araújo Silva Jr, Daniel Fantozzi Garcia, Greice Andreotti de Molfetta, Adriana Aparecida Marques, Ida Vanessa Döederlein Schwartz, and 5 more authors
Under Review
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Researchposted Nov 28, 2019
Characterization of Chinese patients with myofibrillar myopathy from a single center: expanding the clinico-genetic spectrum
Yue-Bei Luo, Yuyao Peng, Yuling Lu, Qiuxiang Li, Huiqian Duan, Fangfang Bi, Huan Yang
Under Review
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Researchposted Nov 25, 2019
Why is misdiagnosis more likely among some people with rare diseases than others? Insights from a population-based cross-sectional study in China
Dong Dong, Roger Yat-Nork Chung, Rufina Chan, Shiwei Gong, Huan Xu
Under Review
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Researchposted Nov 25, 2019
3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: One disease- many faces
Sarah Catharina Grünert, Jörn Oliver Sass
Under Review
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Researchposted Nov 25, 2019
Reliability of Optic Disc Edema Area in Estimating the Severity of Papilledema in Patients with POEMS Syndrome
Ling-shan Liu, Xiao Zhang, Hao Zhao, Xue-min Gao, Dao-bin Zhou, Rongping Dai, Jian Li
Under Review
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Researchposted Nov 21, 2019
Maple Syrup Urine Disease in Brazilian Patients: Variants and Clinical Phenotype Heterogeneity
Ana Vitoria Barban Margutti, Wilson Araújo Silva, Daniel Fantozzi Garcia, Greice Andreotti de Molfetta, Adriana Aparecida Marques, Tatiana Amorim, Vânia Mesquita Gadelha Prazeres, and 11 more authors
Under Review
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Researchposted Nov 14, 2019
A novel ABCC2 p.G693R mutation resulting in loss of function of MRP2: a recurrent cause of hyperbilirubinemia in Dubin-Johnson syndrome in China
Lina Wu, Yanmeng Li, Yi Song, Donghu Zhou, Siyu Jia, Anjian Xu, Wei Zhang, and 4 more authors
Under Review
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