Journal of Rare Disorders: Diagnosis & Therapy | Volume 1, Issue 3

2015: Volume 1, Issue 3

Case Report: J Rare Dis Diagn Ther. (18)

Improved Neurodevelopmental Outcome in a Patient with Aicardi syndrome after Palliative Surgical Resection

Author(s): Anuradha Singh,Patricia Dugan and Deepti Anbarasan

Abstract | Full-Text | PDF
Case Report: J Rare Dis Diagn Ther. (19)

Recurrent Bleeding Symptoms in an Infant with Heterozygous Mutation of Gamma Glutamyl Carboxylase Gene

Author(s): Punnavit Khongphithakskul, Werasak Sasanakul, Rutchanee Kwanchaipanich, Ampaiwan Chuansumrit, Praguywan Kadegasem, Pakawan Wongwerawattanakoon and Nongnuch Sirachainan

Abstract | Full-Text | PDF
Review Article: J Rare Dis Diagn Ther. (20)

Inherited Sex-Reversal Mutations in SRY Define a Functional Threshold of Gonadogenesis: Biochemical and Evolutionary Implications of a Rare Monogenic Syndrome

Author(s): Yen-Shan Chen, Joseph D Racca, Paul W Sequeira and Michael A Weiss

Abstract | Full-Text | PDF
Case Report: J Rare Dis Diagn Ther. (21)

Molecular Genetic Diagnosis for a Family with Type I Spinal Muscular Atrophy (SMA) via Analysis of the Survival Motor Neuron (SMN) Gene

Author(s): Neda M Bogari, Fareed R Bogari, Husni H Rayes, Noha M Alqassimi, Huda M Balto, Anas I Dannoun, Raneem H Abushanab, Amr Ahmed Amin, Soud Abdulraof A Khogeer and Rami Nassir

Abstract | Full-Text | PDF
Case Report: J Rare Dis Diagn Ther. (22)

MRI Features of a Rare Entity-Cystic Leukoencephalopathy without Megalencephaly

Author(s): Neetu Soni, Shamick Biswas and Sunil Kumar

Abstract | Full-Text | PDF
Case Report: J Rare Dis Diagn Ther. (23)

Congenital Absent Portal Vein with Extrahepatic Portosystemic Shunt: A Futile Growth

Author(s): Vishal Kumar Jain, Swarna G Jain, Pratibha Jain Shah, Satya Bhuvan Singh Netam, Sanjay Kumar and Rajesh Singh

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Editorial: J Rare Dis Diagn Ther. (24)

Using Drug Repurposing as Host-Oriented Therapies to Treat Ebola Infections

Author(s): Anastasia Levitin

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Case Report: J Rare Dis Diagn Ther. (25)

Xanthogranulomatous Pyelonephritis (XGPN) Presenting as Renal Lump in Infant: Rare Presentation

Author(s): Rahul Ghule, Ram Daga, Jaydeep Date, Sujit Joshi and Subodh Shivde

Abstract | Full-Text | PDF
Research Article: J Rare Dis Diagn Ther. (26)

Isolated and Syndromic Congenital Sternal Cleft

Author(s): Anne Dupre la Tour, Francois Varlet, Hugues Patural and Manuel Lopez

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Case Report: J Rare Dis Diagn Ther. (27)

True Duplicate Bladder Exstrophy

Author(s): Sajad Ahmad Wani, Nisar Ahmad Bhat, Gowher Nazir Mufti and Aejaz Ahsan Baba

Abstract | Full-Text | PDF
Case Report: J Rare Dis Diagn Ther. (28)

Obstructive Sleep Apnea in Patients with MPS: Need for Anatomic Evaluation of the Airway

Author(s): Rachna Wadia, Edward Fong and Paul Harmatz

Abstract | Full-Text | PDF
Case Report: J Rare Dis Diagn Ther. (29)

Squamous Cell Carcinoma of Plantar Trophic Ulcer in the Leprosy Patient: Two Case Reports and Review Literature

Author(s): Kapil Dev, Jaiprakash Gurawalia and Chunduri Srinivas

Abstract | Full-Text | PDF

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