Journal of Rare Disorders: Diagnosis & Therapy

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

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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

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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

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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

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

Pigmented Squamous Cell Carcinoma of Skin: A Case Report

Author(s): Farideh Dehghani and Fariba Binesh

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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

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