Innovative measures to combat rare diseases in China: The national rare diseases registry system, larger-scale clinical cohort studies, and studies in combination with precision medicine research.

Song PP, He JJ, Li F, Jin CL

Intractable Rare Dis Res. 2017; 6(1):1-5.

DOI: 10.5582/irdr.2017.01003

Summary Full Text (PDF)

Novel and emerging therapies in the treatment of recessive dystrophic epidermolysis bullosa.

Rashidghamat E, McGrath JA

Intractable Rare Dis Res. 2017; 6(1):6-20.

DOI: 10.5582/irdr.2017.01005

Summary Full Text (PDF)

Pancreatic neuroendocrine tumors.

Sun J

Intractable Rare Dis Res. 2017; 6(1):21-28.

DOI: 10.5582/irdr.2017.01007

Summary Full Text (PDF)

From promising molecules to orphan drugs: Early clinical drug development.

Dooms M

Intractable Rare Dis Res. 2017; 6(1):29-34.

DOI: 10.5582/irdr.2016.01094

Summary Full Text (PDF)

Interferon-stimulated gene 20-kDa protein (ISG20) in infection and disease: Review and outlook.

Zheng ZW, Wang L, Pan JH

Intractable Rare Dis Res. 2017; 6(1):35-40.

DOI: 10.5582/irdr.2017.01004

Summary Full Text (PDF)

Diagnosis and treatment of Dent disease in 10 Chinese boys.

He GH, Zhang HW, Wang F, Liu XY, Xiao HJ, Yao Y

Intractable Rare Dis Res. 2017; 6(1):41-45.

DOI: 10.5582/irdr.2016.01088

Summary Full Text (PDF)

Prevalence of vestibular symptoms in individuals with auditory neuropathy spectrum disorder – A retrospective study.

Prabhu P, Jamuar P

Intractable Rare Dis Res. 2017; 6(1):46-49.

DOI: 10.5582/irdr.2016.01098

Summary Full Text (PDF)

Expression of GPR17, a regulator of oligodendrocyte differentiation and maturation, in Nasu-Hakola disease brains.

Satoh J, Kino Y, Yanaizu M, Tosaki Y, Sakai K, Ishida T, Saito Y

Intractable Rare Dis Res. 2017; 6(1):50-54.

DOI: 10.5582/irdr.2016.01097

Summary Full Text (PDF)

Tuberculosis and Guillain-Barre syndrome: A chance association?

Mohta S, Soneja M, Vyas S, Khot W

Intractable Rare Dis Res. 2017; 6(1):55-57.

DOI: 10.5582/irdr.2016.01073

Summary Full Text (PDF)

Gomez-Lopez-Hernández syndrome: First reported case from the Indian subcontinent.

Choudhary A, Minocha P, Sitaraman S

Intractable Rare Dis Res. 2017; 6(1):58-60.

DOI: 10.5582/irdr.2016.01074

Summary Full Text (PDF)

Microdeletion of chromosome 1q21.3 in fraternal twins is associated with mental retardation, microcephaly, and epilepsy.

Sonmez FM, Uctepe E, Aktas D, Alikasifoglu M

Intractable Rare Dis Res. 2017; 6(1):61-64.

DOI: 10.5582/irdr.2016.01075

Summary Full Text (PDF)

Lesch-Nyhan syndrome: The saga of metabolic abnormalities and self-injurious behavior.

Tewari N, Mathur VP, Sardana D, Bansal K

Intractable Rare Dis Res. 2017; 6(1):65-68.

DOI: 10.5582/irdr.2016.01076

Summary Full Text (PDF)

Thrombocytosis in a patient with upper gastrointestinal bleeding.

Qi X, De Stefano V, Shao X, Guo X

Intractable Rare Dis Res. 2017; 6(1):69-71.

DOI: 10.5582/irdr.2016.01080

Summary Full Text (PDF)

Audiological findings from an adult with thin cochlear nerves.

Prabhu P, Shivaswamy J

Intractable Rare Dis Res. 2017; 6(1):72-75.

DOI: 10.5582/irdr.2016.01081

Summary Full Text (PDF)

Griscelli syndrome subtype 2 with hemophagocytic lymphohistiocytosis: A case report and review of literature.

Minocha P, Choudhary R, Agrawal A, Sitaraman S

Intractable Rare Dis Res. 2017; 6(1):76-79.

DOI: 10.5582/irdr.2016.01084

Summary Full Text (PDF)