Orphanet Journal of Rare Diseases

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

RESEARCH

Isoform-specific NF1 mRNA levels correlate with disease severity in Neurofibromatosis type 1

Antonia Assunto, Ursula Ferrara, Alessandro De Luca, Claudia Pivonello, Lisa Lombardo, Annapina Piscitelli, Cristina Tortora, Valentina Pinna, Paola Daniele, Rosario Pivonello, Maria Giovanna Russo, Giuseppe Limongelli, Annamaria Colao, Marco Tartaglia, Pietro Strisciuglio and Daniela Melis

Orphanet Journal of Rare Diseases 2019, 14:261 | Published on: 15 November 2019

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RESEARCH

Face processing and exploration of social signals in Prader-Willi syndrome: a genetic signature

Jimmy Debladis, Marion Valette, Kuzma Strenilkov, Carine Mantoulan, Denise Thuilleaux, Virginie Laurier, Catherine Molinas, Pascal Barone and Maïthé Tauber

Orphanet Journal of Rare Diseases 2019, 14:262 | Published on: 15 November 2019

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RESEARCH

Incidence of acquired thrombotic thrombocytopenic purpura in Germany: a hospital level study

Wolfgang Miesbach, Jan Menne, Martin Bommer, Ulf Schönermarck, Thorsten Feldkamp, Martin Nitschke, Timm H. Westhoff, Felix S. Seibert, Rainer Woitas, Rui Sousa, Michael Wolf, Stefan Walzer and Björn Schwander

Orphanet Journal of Rare Diseases 2019, 14:260 | Published on: 15 November 2019

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REVIEW

Evaluation of earlier versus later dietary management in long-chain 3-hydroxyacyl-CoA dehydrogenase or mitochondrial trifunctional protein deficiency: a systematic review

Hannah Fraser, Julia Geppert, Rebecca Johnson, Samantha Johnson, Martin Connock, Aileen Clarke, Sian Taylor-Phillips and Chris Stinton

Orphanet Journal of Rare Diseases 2019, 14:258 | Published on: 15 November 2019

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RESEARCH

Genetic and clinical characterization of 73 Pigmentary Mosaicism patients: revealing the genetic basis of clinical manifestations

C. Salas-Labadía, S. Gómez-Carmona, R. Cruz-Alcívar, D. Martínez-Anaya, V. Del Castillo-Ruiz, C. Durán-McKinster, V. Ulloa-Avilés, E. Yokoyama-Rebollar, A. Ruiz-Herrera, P. Navarrete-Meneses, E. Lieberman-Hernández, A. González-Del Angel, D. Cervantes-Barragán, C. Villarroel-Cortés, A. Reyes-León, D. Suárez-Pérez…

Orphanet Journal of Rare Diseases 2019, 14:259 | Published on: 15 November 2019

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