Journal of Rare Disorders: Diagnosis & Therapy

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    2015: Volume 1, Issue 2
  • Case Report: J Rare Dis Diagn Ther. (12)

    Orphan Drug Designation within the Development Strategy

    Author(s): Marie Deneux, Tim Adetona, Frederic Pailloux and Emmanuelle Voisin

    Full-Text | PDF

  • Case Report: J Rare Dis Diagn Ther. (13)

    Craniosynostosis associated with Partial Monosomy 2q37.3 and Partial Trisomy 5q35 including MSX2

    Author(s): Eva-Maria Konig, Laura Engmann, Wolfram Kress, Axel Quattlander, Tilmann Schweitzer and Eva Klopocki

    Abstract | Full-Text | PDF

  • Case Report: J Rare Dis Diagn Ther. (14)

    Phenylketonuria Treatments Impact on Physical Growth: A Spanish Retrospective Longitudinal Study

    Author(s): Luis Aldamiz-Echevarria, Marta Llarena, Fernando Andrade, Maria L Couce, Domingo Gonzalez Lamuno and María A Bueno

    Abstract | Full-Text | PDF

  • Case Report: J Rare Dis Diagn Ther. (15)

    The Management Of a Case With Maple Syrup Urine Disease With Haemofiltration and Nutritional Support in the Perioperative Period

    Author(s): Karolina M Stepien, Gisela Wilcox, Diane Green, Stephen Fletcher and Prof Chris J Hendriksz

    Abstract | Full-Text | PDF

  • Case Report: J Rare Dis Diagn Ther. (16)

    Pigmented Squamous Cell Carcinoma of Skin: A Case Report

    Author(s): Farideh Dehghani and Fariba Binesh

    Abstract | Full-Text | PDF

  • Case Report: J Rare Dis Diagn Ther. (17)

    Antithrombotic Prophylaxis with Fondaparinux in Two Pregnant Women with Previous Cerebral Vein Thrombosis

    Author(s): Serena M Passamonti, Francesca Gianniello and Ida Martinelli

    Abstract | Full-Text | PDF

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