Journal of Rare Disorders: Diagnosis & Therapy | Volume 1, Issue 1

2015: Volume 1, Issue 1

Clinical images: J Rare Dis Diagn Ther. (1)

Hyperpigmentation in a newborn with familial glucocorticoid deficiency

Author(s): Roya Farhadi and Daniel Zamanfar

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Case Report: J Rare Dis Diagn Ther. (2)

Neurological Complications in Phenotypical Pfeiffer Syndrome: A Case Report

Author(s): Christian J Amlang, Amre Nouh, Douglas E Anderson and Jose Biller,

Abstract | Full-Text | PDF
Case Report: J Rare Dis Diagn Ther. (3)

Contiguous Gene Deletion of Chromosome Xp in Three Families Encompassing OTC, RPGR and TSPAN7 Genes

Author(s): Shailly Jain-Ghai,Stephanie Skinner, Jessica Hartley,Stephanie Fox, Daniela Buhas, Cheryl Rockman-Greenberg and Alicia Chan

Abstract | Full-Text | PDF
Clinical images: J Rare Dis Diagn Ther. (4)

High Tension Electrical Injury

Author(s): Dana A Abdulmagid

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Short Communication: J Rare Dis Diagn Ther. (5)

Rare Diseases: A Common Problem

Author(s): Gopalan Narayanan

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Case Report: J Rare Dis Diagn Ther. (6)

A Case of Congenital Giant Pigmented Nevus in a Newborn of Triplet Birth

Author(s): Roya Farhadi

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Commentary: J Rare Dis Diagn Ther. (7)

Rare disorders: the role of accurate case-based research, inquiries and qualitative research

Author(s): Mario G Bianchetti, Maria Caiata-Zufferey, Gregorio P Milani and Sebastiano A G Lava

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Case Report: J Rare Dis Diagn Ther. (8)

Medial Rectus Epithelial Inclusion Cyst after Strabismus Surgery and Review of the Literature

Author(s): Xiaona Wang, Xin Ge and Jianmin Ma

Abstract | Full-Text | PDF
Mini Review: J Rare Dis Diagn Ther. (9)

Enerca: The European Network for Patients with Rare Anaemias

Author(s): Joan-Lluis Vives Corrons and Maria del Mar Manu Pereira

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Research Article: J Rare Dis Diagn Ther. (10)

Muscle MRI in Classic Infantile Pompe Disease

Author(s): Stephan C Wens, Tessa E van Doeveren, Maarten H Lequin, Carin M van Gelder, Rob M Verdijk, Hannerieke J van der Hout, Pieter A van Doorn, Ans T van der Ploeg and Rene I de Coo

Abstract | Full-Text | PDF
Research Article: J Rare Dis Diagn Ther. (11)

The Niemann-Pick Disease Type C Suspicion Index: Development of a New Tool to Aid Diagnosis

Author(s): Christian J Hendriksz, Mercedes Pineda, Michael Fahey,Mark Walterfang, Miriam Stampfer, Heiko Runz, Marc C. Patterson, Juan V. Torres and Stefan A. Kolb

Abstract | Full-Text | PDF | Supplementary File