Orphanet Journal of Rare Diseases

The following new articles have just been published in Orphanet Journal of Rare Diseases

RESEARCH

Ocular manifestations in Gorlin-Goltz syndrome

Antonietta Moramarco, Ehud Himmelblau, Emanuele Miraglia, Fabiana Mallone, Vincenzo Roberti, Federica Franzone, Chiara Iacovino, Sandra Giustini and Alessandro Lambiase

Orphanet Journal of Rare Diseases 2019, 14:218 | Published on: 18 September 2019

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RESEARCH

Diagnosis and phenotypic assessment of trimethylaminuria, and its treatment with riboflavin: 1H NMR spectroscopy and genetic testing

Nadia Bouchemal, Lisa Ouss, Anaïs Brassier, Valérie Barbier, Stéphanie Gobin, Laurence Hubert, Pascale de Lonlay and Laurence Le Moyec

Orphanet Journal of Rare Diseases 2019, 14:222 | Published on: 18 September 2019

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RESEARCH

Identification and characterization of NF1 and non-NF1 congenital pseudarthrosis of the tibia based on germline NF1 variants: genetic and clinical analysis of 75 patients

Guanghui Zhu, Yu Zheng, Yaoxi Liu, An Yan, Zhengmao Hu, Yongjia Yang, Shiting Xiang, Liping Li, Weijian Chen, Yu Peng, Nanbert Zhong and Haibo Mei

Orphanet Journal of Rare Diseases 2019, 14:221 | Published on: 18 September 2019

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RESEARCH

Estimating the fiscal impact of rare diseases using a public economic framework: a case study applied to hereditary transthyretin-mediated (hATTR) amyloidosis

Mark P. Connolly, Saswat Panda, Julien Patris and Bouke P. C. Hazenberg

Orphanet Journal of Rare Diseases 2019, 14:220 | Published on: 18 September 2019

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RESEARCH

Individualized treatment with denosumab in children with osteogenesis imperfecta – follow up of a trial cohort

Heike Hoyer-Kuhn, Mirko Rehberg, Christian Netzer, Eckhard Schoenau and Oliver Semler

Orphanet Journal of Rare Diseases 2019, 14:219 | Published on: 18 September 2019

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