Accessibility of drugs for rare diseases in China: Policies and current situation

Yang Y, Kang Q, Hu JH, Kong FX, Tang M, He JJ, Jin CL

Intractable Rare Dis Res. 2019; 8(2):80-88.

DOI: 10.5582/irdr.2019.01068

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Incidence and prevalence of 121 rare diseases in China: Current status and challenges.

He JJ, Tang M, Zhang XY, Chen D, Kang Q, Yang Y, Hu JH, Jin CL, Song PP

Intractable Rare Dis Res. 2019; 8(2):89-97.

DOI: 10.5582/irdr.2019.01066

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Molecular mechanisms and clinical manifestations of rare genetic disorders associated with type I collagen.

Lu YQ, Zhang SE, Wang YZ, Ren XZ, Han JX

Intractable Rare Dis Res. 2019; 8(2):98-107.

DOI: 10.5582/irdr.2019.01064

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Laparoscopic treatment of median arcuate ligament syndrome.

Sun ZP, Zhang DD, Xu GZ, Zhang NW

Intractable Rare Dis Res. 2019; 8(2):108-112.

DOI: 10.5582/irdr.2019.01031

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A preliminary study on the mechanism of skeletal abnormalities in Turner syndrome using inducing pluripotent stem cells (iPS)-based disease models.

Cui XX, Cui YZ, Shi L, Luan J, Zhou XY, Han JX

Intractable Rare Dis Res. 2019; 8(2):113-119.

DOI: 10.5582/irdr.2019.01025

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Microglia express GPNMB in the brains of Alzheimer's disease and Nasu-Hakola disease.

Satoh J, Kino Y, Yanaizu M, Ishida T, Saito Y

Intractable Rare Dis Res. 2019; 8(2):120-128.

DOI: 10.5582/irdr.2019.01049

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A potential significance of circ_0024169 down regulation in angiosarcoma tissue.

Nakashima S, Jinnin M, Ide M, Kajihara I, Igata T, Harada M, Masuguchi S, Fukushima S, Masuzawa M, Masuzawa M, Amoh Y, Ihn H

Intractable Rare Dis Res. 2019; 8(2):129-133.

DOI: 10.5582/irdr.2019.01034

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Heart rate variability in a patient with alternating hemiplegia.

Nakashima T, Yasuda K, Kobayashi M, Wada H, Ishii A, Hirose S

Intractable Rare Dis Res. 2019; 8(2):134-137.

DOI: 10.5582/irdr.2019.01060

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Tumefactive fibroinflammatory lesion successfully treated with Rituximab.

Bishop J, Bryan L, Savage N, Byrd JK

Intractable Rare Dis Res. 2019; 8(2):138-141.

DOI: 10.5582/irdr.2019.01061

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A novel mutation in TTN gene in a Saudi patient with bilateral facial weakness and scapular winging.

Algahtani H, Shirah B, Algahtani R, Al-Qahtani MH, Abdulkareem AA, Naseer MI

Intractable Rare Dis Res. 2019; 8(2):142-145.

DOI: 10.5582/irdr.2019.01052

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Hypogenesis of right hepatic lobe in a laparoscopic cholecystectomy for acute gallstone cholecystitis: A case report.

Fujimoto Y, Ohya Y, Irie T, Kumamoto S, Tuji A, Nakamura S, Shibata H, Kuramoto K, Hayashi H, Araki Y, Iizaka M, Tomiyasu S, Inomata Y

Intractable Rare Dis Res. 2019; 8(2):146-149.

DOI: 10.5582/irdr.2019.01053

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Splice receptor-site mutation c.697-2A>G of the COL1A1 gene in a Chinese family with osteogenesis imperfecta.

Zhai NX, Lu YQ, Wang YZ, Zhang SE, Peng CM, Zhang SS, Li TY, Chen M, Liu JL, Fang FL, Ren XZ, Han JX

Intractable Rare Dis Res. 2019; 8(2):150-153.

DOI: 10.5582/irdr.2019.01046

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Goldston syndrome with congenital hepatic fibrosis: A rare cause of neonatal cholestasis.

Agrwal S, Dabas A, Pal T, Jhamb U

Intractable Rare Dis Res. 2019; 8(2):154-157.

DOI: 10.5582/irdr.2019.01017

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The progress of, challenges faced by, and future of rare disease patient organizations in China.

Huang RF, Wei YS, Hu JH, Kong FX, He JJ, Yang Y, Tang M, Jin CL, Kang Q

Intractable Rare Dis Res. 2019; 8(2):158-160.

DOI: 10.5582/irdr.2019.01069

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An up-date on novel molecular targets in testicular germ cell tumors subtypes.

Chieffi P

Intractable Rare Dis Res. 2019; 8(2):161-164.

DOI: 10.5582/irdr.2019.01055

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