Journal of Rare Disorders: Diagnosis & Therapy

Articles in press and Articles in process

• Opinion Article: J Rare Disord Diagn Ther (1-2)

  Challenges and Advances in Rare Blood Disorders

  Author(s): Russell Ware

  DOI: 10.36648/2380-7245.9.4.128

  Full-Text | PDF

• Case Report: J Rare Disord Diagn Ther (1-3)

  A Rare Disease with Premature Aging: Case Report

  Author(s): Cansu Erel, Cemil Tascioglu

  DOI: 10.36648/2380-7245.9.5.131

  PDF

  Case Report: J Rare Disord Diagn Ther (1-7)

  AIDS Dementia Complex with Positive 14-3-3 Protein in Cerebrospinal Fluid: A Case Report and Literature Reviewa

  Author(s): Yunsen He1, Xiaohong Qin2, Min Feng4, Qinjiang Huang3, Mengjun Zhang2, Lili Guo1, Mingbin Bao1, Ye Tao1, Hongyuan Dai*3, and Bo Wu*1

  DOI: 10.36648/2380- 7245.9.5.95

  Full-Text | PDF

• Case Report: J Rare Disord Diagn Ther (1-5)

  Vascular Complications of Neurofibromatosis Type 1-A Case Report and Literature Review with Special Emphasis on Pregnancy

  Author(s): Ruben Ploger*, Ulrich Gembruch, Waltraut M Merz, Sylvia LohfinkSchumm, Glen Kristiansen, Alexander Kania and Frauke Verrel

  Abstract | Full-Text | PDF | Supplementary File

• Research Article: J Rare Disord Diagn Ther (1-5)

  Urinary Incontinence and Quality of Life in Women with Cysticc Fibrosis

  Abstract | Full-Text | PDF | Supplementary File

• Research Article: (1-9)

  Clinical and Molecular Spectrum of Sarcoglycanopathy Related Genes in Iranian Families

  Author(s): Mohammad Amin Khodadadegan, Soheila Abedini, Mohammad Doosti, Paria Najarzadeh Torbati, Mojtaba Safi, Hadis Malek, Samaneh Maskani, Masoumeh Ramahi, Sogand Malekzadeh, Mehran Beiraghi Toosi, Reza Boostani, Najmeh Ahangari, Ehsan Ghayoor Karimiani and Yalda Jamshidi

  DOI: 10.36648/2380-7245/8.5.56

  Abstract | Full-Text | PDF