Osteopetrosis-like disorders induced by osteoblast-specific retinoic acid signaling inhibition in mice by Siyuan Sun, Yuanqi Liu, Jiping Sun, Bingxin Zan, Yiwen Cui, Anting Jin, Hongyuan Xu, Xiangru Huang, Yanfei Zhu, Yiling Yang, Xin Gao, Tingwei Lu, Xinyu Wang, Jingyi Liu, Li Mei, Lei Shen, Qinggang Dai, Lingyong Jiang

“…Abstract Osteopetrosis is an inherited metabolic disease, characterized by increased bone density and narrow marrow cavity. …”
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Systematic literature review of the somatic comorbidities experienced by adults with phenylketonuria by Kaleigh B. Whitehall, Sarah Rose, Gillian E. Clague, Kirsten K. Ahring, Deborah A. Bilder, Cary O. Harding, Álvaro Hermida, Anita Inwood, Nicola Longo, François Maillot, Ania C. Muntau, André L. S. Pessoa, Júlio C. Rocha, Fran Rohr, Serap Sivri, Jack Said, Sheun Oshinbolu, Gillian C. Sibbring

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Safety and efficacy of pegunigalsidase alfa in patients with Fabry disease who were previously treated with agalsidase alfa: results from BRIDGE, a phase 3 open-label study by Aleš Linhart, Gabriela Dostálová, Kathy Nicholls, Michael L. West, Camilla Tøndel, Ana Jovanovic, Pilar Giraldo, Bojan Vujkovac, Tarekegn Geberhiwot, Einat Brill-Almon, Sari Alon, Raul Chertkoff, Rossana Rocco, Derralynn Hughes

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Meta-analysis of bone mineral density in adults with phenylketonuria by Júlio C. Rocha, Álvaro Hermida, Cheryl J. Jones, Yunchou Wu, Gillian E. Clague, Sarah Rose, Kaleigh B. Whitehall, Kirsten K. Ahring, André L. S. Pessoa, Cary O. Harding, Fran Rohr, Anita Inwood, Nicola Longo, Ania C. Muntau, Serap Sivri, François Maillot

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High childhood serum triglyceride concentrations associate with hepatocellular adenoma development in patients with glycogen storage disease type Ia by Martijn P.D. Haring, Fabian Peeks, Maaike H. Oosterveer, Martijn C.G.J. Brouwers, Carla E.M. Hollak, Mirian C.H. Janssen, Janneke G. Langendonk, Alexander J.M. Rennings, Margreet A.E.M. Wagenmakers, Henkjan J. Verkade, Terry G.J. Derks, Vincent E. de Meijer

“…Lay summary: Glycogen storage disease type Ia (GSDIa) is a rare, inherited metabolic disease that can be complicated by liver tumours (hepatocellular adenomas), which in turn may cause bleeding or progress to liver cancer. …”
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Health economic impact of patients with phenylketonuria (PKU) in France – A nationwide study of health insurance claims data by Jean-Baptiste Arnoux, Claire Douillard, Francois Maillot, Stéphane Bouée, Christian Jacob, Kim Maren Schneider, Julia Theil, Sybil Charrière

“…Background: Phenylketonuria (PKU) is an inherited metabolic disease. If left untreated, it can lead to severe irreversible intellectual disability and can cause seizures, behavior disturbance, and white matter disease. …”
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Autophagy-Related Gene 7 Polymorphisms and Cerebral Palsy in Chinese Infants by Lei Xia, Jianhua Xu, Juan Song, Yiran Xu, Bohao Zhang, Chao Gao, Dengna Zhu, Chongchen Zhou, Dan Bi, Yangong Wang, Xiaoli Zhang, Xiaoli Zhang, Qing Shang, Yimeng Qiao, Xiaoyang Wang, Xiaoyang Wang, Qinghe Xing, Qinghe Xing, Changlian Zhu, Changlian Zhu

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A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome by Jessica Duis, Mark Nespeca, Jane Summers, Lynne Bird, Karen G.C.B. Bindels‐de Heus, M. J. Valstar, Marie‐Claire Y. deWit, C. Navis, Maartje ten Hooven‐Radstaake, Bianca M. vanIperen‐Kolk, Susan Ernst, Melina Dendrinos, Terry Katz, Gloria Diaz‐Medina, Akshat Katyayan, Srishti Nangia, Ronald Thibert, Daniel Glaze, Christopher Keary, Karine Pelc, Nicole Simon, Anjali Sadhwani, Helen Heussler, Anne Wheeler, Caroline Woeber, Margaret DeRamus, Amy Thomas, Emily Kertcher, Lauren DeValk, Kristen Kalemeris, Kara Arps, Carol Baym, Nicole Harris, John P. Gorham, Brenda L. Bohnsack, Reid C. Chambers, Sarah Harris, Henry G. Chambers, Katherine Okoniewski, Elizabeth R. Jalazo, Allyson Berent, Carlos A. Bacino, Charles Williams, Anne Anderson

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