Marketing of drugs for rare diseases is speeding up in China: Looking at the example of drugs for mucopolysaccharidosis

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

Intractable Rare Dis Res. 2019; 8(3):165-171.

DOI: 10.5582/irdr.2019.01090

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Genetics of hereditary hearing loss in east Iran population: A systematic review of GJB2 mutations.

Koohiyan M, Azadegan-Dehkordi F, Koohian F, Abolhasani M, Hashemzadeh-Chaleshtori M

Intractable Rare Dis Res. 2019; 8(3):172-178.

DOI: 10.5582/irdr.2019.01070

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Narrow-band chirp and tone burst auditory brainstem response as an early indicator of synaptopathy in industrial workers exposed to occupational noise.

Megha KN, Divyashree KN, Lakshmi A, Adithya S, Keerthana KP, Pushpalatha ZV, Konadath S

Intractable Rare Dis Res. 2019; 8(3):179-186.

DOI: 10.5582/irdr.2019.01073

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Syndromic progressive neurodegenerative disease of infancy caused by novel variants in HIBCH: Report of two cases in Colombia.

Candelo E, Cochard L, Caicedo-Herrera G, Granados AM, Gomez JF, Diaz-Ordoñez L, Ramirez-Montaño D, Pachajoa H

Intractable Rare Dis Res. 2019; 8(3):187-193.

DOI: 10.5582/irdr.2019.01014

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Molecular spectrum and allelic frequency of different subtypes (1,2, 3, 6 and 7) of Spinocerebellar ataxia in the Indian population.

Vishwakarma P, Agarwal S

Intractable Rare Dis Res. 2019; 8(3):194-197.

DOI: 10.5582/irdr.2019.01063

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Advantages of ddPCR in detection of PLP1 duplications.

Imaizumi T, Yamamoto-Shimojima K, Yamamoto T

Intractable Rare Dis Res. 2019; 8(3):198-202.

DOI: 10.5582/irdr.2019.01067

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Pre-Paget cells: Evidence of keratinocyte origin of extramammary Paget's disease.

Smith AA

Intractable Rare Dis Res. 2019; 8(3):203-205.

DOI: 10.5582/irdr.2019.01096

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Torcular herophili and lateral sinus thrombosis: An atypical presentation of Lemièrre's syndrome.

Baltasar-Corral J, Martín-Rojas RM, Parra-Virto A, Galeano-Valle F, Del-Valle-Diéguez M, Del-Toro-Cervera J, Demelo-Rodríguez P

Intractable Rare Dis Res. 2019; 8(3):206-209.

DOI: 10.5582/irdr.2019.01071

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Pituitary incidentaloma diagnosed as acromegaly triggered by trauma: A case report.

Morinaga Y, Abe I, Sakamoto K, Inoue R, Mitsutake T, Hanada H, Haraoka S, Nii K

Intractable Rare Dis Res. 2019; 8(3):210-213.

DOI: 10.5582/irdr.2019.01075

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Two-staged biliary reconstruction with temporary complete external biliary drainage as a bailout procedure in a pediatric patient after difficult living donor liver retransplantation.

Yamamoto H, Sugawara Y, Ibuki S, Shimata K, Narita Y, Hibi T

Intractable Rare Dis Res. 2019; 8(3):214-216.

DOI: 10.5582/irdr.2019.01081

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Effectiveness of endoscopic transsphenoidal surgery for gonadotroph adenoma mimicking dementia: A case report.

Morinaga Y, Abe I, Sakamoto K, Inoue R, Mitsutake T, Hanada H, Haraoka S, Nii K

Intractable Rare Dis Res. 2019; 8(3):217-220.

DOI: 10.5582/irdr.2019.01082

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Successful percutaneous computed tomography guided drainage of mediastinal abscess in esophageal perforation.

Selim M, Kapoor V, Ali M, Mirza M, Stavas J

Intractable Rare Dis Res. 2019; 8(3):221-223.

DOI: 10.5582/irdr.2019.01080

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Focusing on basic data and a model of healthcare security for rare diseases: The Multidisciplinary Expert Seminar on Healthcare Security for Rare Diseases in China was held in Beijing.

Kang Q, Jin CL, Li DG

Intractable Rare Dis Res. 2019; 8(3):224-225.

DOI: 10.5582/irdr.2019.01097

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