Circular RNAs and hereditary bone diseases.

Zhai NX, Lu YQ, Wang YZ, Ren XZ, Han JX

Intractable Rare Dis Res. 2018; 7(1):1-6.

DOI: 10.5582/irdr.2018.01013

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The natural history of hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P) in 97 Japanese patients.

Fujisaki N, Suwazono S, Suehara M, Nakachi R, Kido M, Fujiwara Y, Oshiro S, Tokashiki T, Takashima H, Nakagawa M

Intractable Rare Dis Res. 2018; 7(1):7-12.

DOI: 10.5582/irdr.2017.01084

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Comparison of the extraction and determination of serum exosome and miRNA in serum and the detection of miR-27a-3p in serum exosome of ALS patients.

Xu Q, Zhao YY, Zhou XY, Luan J, Cui YZ, Han JX

Intractable Rare Dis Res. 2018; 7(1):13-18.

DOI: 10.5582/irdr.2017.01091

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Complex heterozygous WNT1 mutation in severe recessive osteogenesis imperfecta of a Chinese patient.

Lu YQ, Dai YZ, Wang YZ, Zhai NX, Zhang J, Liu JL, Yin XL, Li TY, Ren XZ, Han JX

Intractable Rare Dis Res. 2018; 7(1):19-24.

DOI: 10.5582/irdr.2018.01014

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Carotid strain measurement in patients with pseudoxanthoma elasticum – Hint for a different pathomechanism?

Passon SG, Kullmar V, Blatzheim AK, Pausewang KS, Stumpf MJ, Hendig D, Gliem M, Pingel S, Schueler R, Skowasch D, Schahab N, Nickenig G, Schaefer CA

Intractable Rare Dis Res. 2018; 7(1):25-31.

DOI: 10.5582/irdr.2018.01004

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Alzheimer's disease pathology in Nasu-Hakola disease brains.

Satoh J, Kino Y, Yanaizu M, Saito Y

Intractable Rare Dis Res. 2018; 7(1):32-36.

DOI: 10.5582/irdr.2017.01088

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Osteogenesis imperfecta type III/Ehlers-Danlos overlap syndrome in a Chinese man.

Lu YQ, Wang YZ, Rauch F, Li H, Zhang Y, Zhai NX, Zhang J, Ren XZ, Han JX

Intractable Rare Dis Res. 2018; 7(1):37-41.

DOI: 10.5582/irdr.2018.01010

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A de novo and novel mutation in the EYA1 gene in a Chinese child with branchio-oto-renal syndrome.

Li GM, Shen Q, Sun L, Liu HM, An Y, Xu H

Intractable Rare Dis Res. 2018; 7(1):42-45.

DOI: 10.5582/irdr.2017.01075

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The ratio of urinary α1-microglobulin to microalbumin can be used as a diagnostic criterion for tubuloproteinuria.

Zhang HW, Wang F, Xiao HJ, Yao Y

Intractable Rare Dis Res. 2018; 7(1):46-50.

DOI: 10.5582/irdr.2017.01079

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Omental fibromatosis treated by laparoscopic wide surgical resection.

Martin D, Muradbegovic M, Andrejevic-Blant S, Petermann D, Di Mare L

Intractable Rare Dis Res. 2018; 7(1):51-53.

DOI: 10.5582/irdr.2018.01011

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Intracardiac thrombosis in Behçet's Disease successfully treated with immunosuppressive agents: A case of vascular pathergy phenomenon.

Galeano-Valle F, Demelo-Rodriguez P, Alvarez-Sala-Walther L, Pinilla-Llorente B, Echenagusia-Boyra MJ, Rodriguez-Abella H, Del-Toro-Cervera J

Intractable Rare Dis Res. 2018; 7(1):54-57.

DOI: 10.5582/irdr.2018.01006

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A case of stent thrombosis presenting as acute myocardial infarction related to right coronary artery originating from the left coronary system.

Ermis E, Kahraman S, Ucar H, Allahverdiyev S

Intractable Rare Dis Res. 2018; 7(1):58-60.

DOI: 10.5582/irdr.2018.01001

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A case of HTLV-1 associated adult T-cell lymphoma presenting with cutaneous lesions and tropical spastic paresis.

Sharma P, Witteman M, Sundaravel S, Larocca T, Zhang Y, Goldstajn H

Intractable Rare Dis Res. 2018; 7(1):61-64.

DOI: 10.5582/irdr.2017.01077

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Successful ERCP for management of traumatic pancreatic disruption in a patient with situs inversus.

Sharma V, Malik S, Mandavdhare HS, Singh H

Intractable Rare Dis Res. 2018; 7(1):65-68.

DOI: 10.5582/irdr.2017.01072

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Early electronic screen exposure and autistic-like symptoms.

Hermawati D, Rahmadi FA, Sumekar TA, Winarni TI

Intractable Rare Dis Res. 2018; 7(1):69-71.

DOI: 10.5582/irdr.2018.01007

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