Analysis of marketed orphan drugs in China

Zhi W, Liu M, Yang D, Zhang S, Lu Y, Han J

Intractable Rare Dis Res. 2023; 12(3):132-140.

DOI: 10.5582/irdr.2023.01030

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Ortner's syndrome: A systematic review of presentation, diagnosis and management

Verma S, Talwar A, Talwar A, Khan S, Krishnasastry KV, Talwar A

Intractable Rare Dis Res. 2023; 12(3):141-147.

DOI: 10.5582/irdr.2023.01047

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Diagnosis, treatment, and research status of rare diseases related to birth defects

Zhao HJ, Du C, Yang G, Wang Y

Intractable Rare Dis Res. 2023; 12(3):148-160.

DOI: 10.5582/irdr.2023.01052

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Carrier screening programs for rare diseases in developed countries and the case of Turkey: A systematic review

Fidan Ç, Akdur R, Ünver ÇN, Şahin ÖC, Alper AB, Ayhan A

Intractable Rare Dis Res. 2023; 12(3):161-169.

DOI: 10.5582/irdr.2023.01005

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VEXAS syndrome: Current clinical, diagnostic and treatment approaches

Kobak S

Intractable Rare Dis Res. 2023; 12(3):170-179.

DOI: 10.5582/irdr.2023.01020

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The novel role of IFITM1–3 in myogenic differentiation of C2C12 cells

Zhang Y, Lu Y, Li X, Zhang S, Liu P, Hao X, Han J

Intractable Rare Dis Res. 2023; 12(3):180-190.

DOI: 10.5582/irdr.2023.01050

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Analysis of microsatellite instability (MSI) in pediatric gonadal and extra-gonadal germ cell tumors

Montella M, Errico ME, Ronchi A, Zannini G, Donofrio V, Savarese G, Sirica R, Esposito F, De Martino M, Papparella A, Franco R, Chieffi P, Zito Marino F

Intractable Rare Dis Res. 2023; 12(3):191-197.

DOI: 10.5582/irdr.2023.01039

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Re-survey of 16 Japanese patients with advanced-stage hereditary motor sensory neuropathy with proximal dominant involvement (HMSN-P): Painful muscle cramps for early diagnosis

Shoji H, Sakamoto R, Saito C, Akino K, Taniguchi M

Intractable Rare Dis Res. 2023; 12(3):198-201.

DOI: 10.5582/irdr.2023.01051

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Carbonic anhydrase II deficiency syndrome with amelogenesis imperfecta linked to a homozygous CA2 deletion

Leite LDR, Resende KKM, Rosa LS, Mazzeu JF, Oliveira LC, Scher MCSD, Acevedo AC, Yamaguti PM

Intractable Rare Dis Res. 2023; 12(3):202-205.

DOI: 10.5582/irdr.2023.01033

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PIK3CA mutations in cutaneous squamous cell carcinoma

Kusaba Y, Kajihara I, Sakamoto R, Maeda-Otsuka S, Yamada-Kanazawa S, Sawamura S, Makino K, Aoi J, Masuguchi S, Fukushima S

Intractable Rare Dis Res. 2023; 12(3):206-207.

DOI: 10.5582/irdr.2023.01069

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