Epidemiology and distribution of 207 rare diseases in China: A systematic literature review

Wang YK, Liu YC, Du GY, Liu YH, Zeng Y

Intractable Rare Dis Res. 2024; 13(2):73-88.

DOI: 10.5582/irdr.2024.01001

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Systematic review of phenotypes and genotypes of patients with gastrointestinal defects and immunodeficiency syndrome-1 (GIDID1) (related to TTC7A)

Busolin A, Vely F, Eymard-Duvernay G, Barlogis V, Fabre A

Intractable Rare Dis Res. 2024; 13(2):89-98.

DOI: 10.5582/irdr.2023.01109

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Single-cell metabolomics in rare disease: From technology to disease

Li LS, Zhang YQ, Zhou J, Wang J, Wang L

Intractable Rare Dis Res. 2024; 13(2):99-103.

DOI: 10.5582/irdr.2023.01073

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A novel mutation in the OTOF gene in a Chinese family with auditory neuropathy

Deng L, Wen C, Yu YD, Li Y, Liu H, Fu XX, Cheng XH, Huang LH

Intractable Rare Dis Res. 2024; 13(2):104-109.

DOI: 10.5582/irdr.2024.01004

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Lysine succinylation analysis reveals the effect of Sirt5 on synovial fibroblasts in rheumatoid arthritis patients

Shi HM, Zhang YQ, Yin JX, Xin W, Zhong CX, Pan JH

Intractable Rare Dis Res. 2024; 13(2):110-116.

DOI: 10.5582/irdr.2023.01114

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Reprogramming the future: Capitalizing on in vitro embryo culture by advancing stem cell technologies in the fight against rare genetic disorders

Li LS, Zhang TW, Hua ZZ, Wang J, Sun HM, Qian C, Zhou YY, Wang L

Intractable Rare Dis Res. 2024; 13(2):117-120.

DOI: 10.5582/irdr.2023.01074

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Critical issue in the identification of Down syndrome and its problems in Central Java, Indonesia: The fact of needing health care and better management

Utari A, Cayami FK, Rahardjo TA, Sabatini SE, Ulvyana V, Winarni TI

Intractable Rare Dis Res. 2024; 13(2):121-125.

DOI: 10.5582/irdr.2023.01103

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The epidemiology and healthcare burden of rare diseases requiring hospitalisation among adult patients in Langkawi, Malaysia: Insights from a pilot study

Chow NK, Abdul Ghani N, Zamri N, Anuar MN

Intractable Rare Dis Res. 2024; 13(2):126-128.

DOI: 10.5582/irdr.2024.01009

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The history of the Japanese Society for Neuro-infectious Diseases: Foundation, objectives, and legacy

Shoji H, Yamano Y

Intractable Rare Dis Res. 2024; 13(2):129-132.

DOI: 10.5582/irdr.2024.01008

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