Molecular genetics and general management of androgen insensitivity syndrome

Chen ZZ, Li P, Lyu YQ, Wang YP, Gao KX, Wang J, Lan FY, Chen F

Intractable Rare Dis Res. 2023; 12(2):71-77.

DOI: 10.5582/irdr.2023.01024

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Urogenital sinus malformation: From development to management

Ding Y, Wang YP, Lyu YQ, Xie H, Huang YC, Wu M, Chen F, Chen ZZ

Intractable Rare Dis Res. 2023; 12(2):78-87.

DOI: 10.5582/irdr.2023.01027

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Health-related quality of life (HRQoL) and psychological impact of the COVID-19 pandemic on patients with myasthenia gravis

García I, Martínez O, López-Paz JL, Salgueiro M, Rodríguez AA, Zorita J, García-Sanchoyerto M, Amayra I

Intractable Rare Dis Res. 2023; 12(2):88-96.

DOI: 10.5582/irdr.2023.01003

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Trust in physicians and definitive diagnosis time among Japanese patients with specific intractable diseases: A cross-sectional study

Tanaka H, Shimaoka M

Intractable Rare Dis Res. 2023; 12(2):97-103.

DOI: 10.5582/irdr.2023.01017

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Genetic diagnostic approach to intellectual disability and multiple congenital anomalies in Indonesia

Sihombing NRB, Winarni TI, de Leeuw N, van Bon BW, van Bokhoven H, Faradz SMH

Intractable Rare Dis Res. 2023; 12(2):104-113.

DOI: 10.5582/irdr.2023.01001

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Evaluation of the efficacy and safety of pegloticase for the treatment of chronic refractory gout through meta-analysis

Fan TC, Wang YF, Song TQ, Sun Y

Intractable Rare Dis Res. 2023; 12(2):114-117.

DOI: 10.5582/irdr.2022.01131

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A very rare cause of leukoencephalopathy: Lymphomatosis cerebri

Giorelli M, Altomare S, Aniello MS, Bruno MC, Leone R, Liuzzi D, Ingravallo G, Di Fazio P, Scarabino T, Tarantini G

Intractable Rare Dis Res. 2023; 12(2):118-121.

DOI: 10.5582/irdr.2022.01134

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Autoantibodies, clinical phenotypes and quality of life in Lebanese patients with myasthenia gravis

Baalbaki J, Agha M, Jaafar N, Yamout B, Moussa S

Intractable Rare Dis Res. 2023; 12(2):122-125.

DOI: 10.5582/irdr.2023.01009

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Pseudoxanthoma elasticum is associated with cardiocirculatory inefficiency

Pizarro C, Stumpf MJ, Staberock L, Schaefer CA, Schahab N, Nickenig G, Skowasch D

Intractable Rare Dis Res. 2023; 12(2):126-128.

DOI: 10.5582/irdr.2023.01014

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End-stage renal disease due to retroperitoneal fibrosis in neurofibromatosis type I

Ramanzini LG, Camargo LFM, Caixeta TLO, Louzada RC, Frare JM

Intractable Rare Dis Res. 2023; 12(2):129-131.

DOI: 10.5582/irdr.2023.01018

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