Next generation sequencing: Coping with rare genetic diseases in China.

Cram DS, Zhou D

Intractable Rare Dis Res. 2016; 5(3):140-144.

DOI: 10.5582/irdr.2016.01020

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Fragile X syndrome: A review of clinical management.

Lozano R, Azarang A, Wilaisakditipakorn T, Hagerman RJ

Intractable Rare Dis Res. 2016; 5(3):145-157.

DOI: 10.5582/irdr.2016.01048

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Review of targeted treatments in fragile X syndrome.

Ligsay A, Hagerman RJ

Intractable Rare Dis Res. 2016; 5(3):158-167.

DOI: 10.5582/irdr.2016.01045

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Targeting mRNA for the treatment of facioscapulohumeral muscular dystrophy.

Bao B, Maruyama R, Yokota T

Intractable Rare Dis Res. 2016; 5(3):168-176.

DOI: 10.5582/irdr.2016.01056

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Endocarditis in left ventricular assist device.

Thyagarajan B, Kumar MP, Sikachi RR, Agrawal A

Intractable Rare Dis Res. 2016; 5(3):177-184.

DOI: 10.5582/irdr.2016.01049

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Development of chidamide for peripheral T-cell lymphoma, the first orphan drug approved in China.

Lu XP, Ning ZQ, Li ZB, Cao HX, Wang XH

Intractable Rare Dis Res. 2016; 5(3):185-191.

DOI: 10.5582/irdr.2016.01024

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Urine-derived induced pluripotent stem cells as a modeling tool to study rare human diseases.

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

Intractable Rare Dis Res. 2016; 5(3):192-201.

DOI: 10.5582/irdr.2016.01062

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Perceptions regarding a range of work-related issues and corresponding support needs of individuals with an intractable disease.

Imahashi K, Fukatsu R, Nakajima Y, Nakamura M, Ito T, Horigome M, Haruna Y, Noda T, Itoyama Y

Intractable Rare Dis Res. 2016; 5(3):202-206.

DOI: 10.5582/irdr.2016.01041

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Alcohol use dependence in fragile X syndrome.

Salcedo-Arellano MJ, Lozano R, Tassone F, Hagerman RJ, Saldarriaga W

Intractable Rare Dis Res. 2016; 5(3):207-213.

DOI: 10.5582/irdr.2016.01046

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Novel SLC16A2 mutations in patients with Allan-Herndon-Dudley syndrome.

Shimojima K, Maruyama K, Kikuchi M, Imai A, Inoue K, Yamamoto T

Intractable Rare Dis Res. 2016; 5(3):214-217.

DOI: 10.5582/irdr.2016.01051

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Malignant McKittrick-Wheelock syndrome as a cause of acute kidney injury and hypokalemia: Report of a case and review of literature.

Malik S, Mallick B, Makkar K, Kumar V, Sharma V, Rana SS

Intractable Rare Dis Res. 2016; 5(3):218-221.

DOI: 10.5582/irdr.2016.01011

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Coffin-Siris syndrome with café-au-lait spots, obesity and hyperinsulinism caused by a mutation in the ARID1B gene.

Sonmez FM, Uctepe E, Gunduz M, Gormez Z, Erpolat S, Oznur M, Sagiroglu MS, Demirci H, Gunduz E

Intractable Rare Dis Res. 2016; 5(3):222-226.

DOI: 10.5582/irdr. 2014.01040

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Hemophagocytic lymphohistiocytosis: A rare cause of recurrent encephalopathy.

Sulaiman RA, Shaheen MY, Al-Zaidan H, Al-Hassnan Z, Al-Sayed M, Rahbeeni Z, Bakshi NA, Kaya N, Aldosary M, Al-Owain M

Intractable Rare Dis Res. 2016; 5(3):227-230.

DOI: 10.5582/irdr.2016.01018

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Cystic adventitial disease of the common femoral vein: A case report.

Yu JM, Lu CJ, Pan XH, Li WH

Intractable Rare Dis Res. 2016; 5(3):231-234.

DOI: 10.5582/irdr.2016.01038

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Behavioral phenotype in a child with Prader-Willi syndrome and comorbid 47, XYY.

Palkar PY, Kabasakalian A, Taylor BP, Doernberg E, Ferretti CJ, Uzunova G, Hollander E

Intractable Rare Dis Res. 2016; 5(3):235-237.

DOI: 10.5582/irdr.2016.01043

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