Forearm porphyrin levels evaluated by digital imaging system are increased in patients with systemic sclerosis compared with patients in pre-clinical stage

Tabata K, Kaminaka C, Yasutake M, Matsumiya R, Inaba Y, Yamamoto Y, Jinnin M, Fujii T

Intractable Rare Dis Res. 2022; 11(1):1-6.

DOI: 10.5582/irdr.2021.01157

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Pulmonary affection of patients with Pseudoxanthoma elasticum: Long-term development and genotype-phenotype-correlation

Stumpf MJ, Schaefer CA, Mahn T, Wolf AE, Biener L, Hendig D, Nickenig G, Schahab N, Pizarro C, Skowasch D

Intractable Rare Dis Res. 2022; 11(1):7-14.

DOI: 10.5582/irdr.2021.01162

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Pan-cancer analysis of osteogenesis imperfecta causing gene SERPINF1

Zhang C, Yang W, Zhang S, Zhang Y, Liu P, Li X, Zhi W, Yang D, Li M, Lu Y

Intractable Rare Dis Res. 2022; 11(1):15-24.

DOI: 10.5582/irdr.2021.01138

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No preferential mode of inheritance for highly constrained genes

Fabre A, Mancini J

Intractable Rare Dis Res. 2022; 11(1):25-28.

DOI: 10.5582/irdr.2022.01011

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The definition of rare disease in China and its prospects

Lu Y, Han J

Intractable Rare Dis Res. 2022; 11(1):29-30.

DOI: 10.5582/irdr.2022.01034

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The cardiovascular outcomes of finerenone in patients with chronic kidney disease and type 2 diabetes: A meta-analysis of randomized clinical trials

Abdelazeem B, Elbadawy M, Awad AK, Kheiri B, Kunadi A

Intractable Rare Dis Res. 2022; 11(1):31-33.

DOI: 10.5582/irdr.2020.01008

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Fabry disease – a genetically conditioned extremely rare disease with a very unusual course

Śnit M, Przyłudzka M, Grzeszczak W

Intractable Rare Dis Res. 2022; 11(1):34-36.

DOI: 10.5582/irdr.2021.01132

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Lemierre's syndrome complicated by cerebral venous sinus thrombosis: A life threatening and rare disease successfully treated with empiric antimicrobial therapy and conservative approach

Giorelli M, Altomare S, Aniello MS, Leone R, Liuzzi D, Plasmati I, Sardaro M, Superbo M, Mennea G, Fioretto N, Guglielmi G, Balzano R, Scarabino T, Cuccorese G, Cialdella F, Campobasso G, Barbara M

Intractable Rare Dis Res. 2022; 11(1):37-39.

DOI: 10.5582/irdr.2021.01142

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Posterior reversible encephalopathy syndrome due to arterial hypertension may mark the onset of the symptomatic phase in Huntington's disease

Giorelli M

Intractable Rare Dis Res. 2022; 11(1):40-42.

DOI: 10.5582/irdr.2021.01148

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Diffuse astrocytoma with mosaic IDH1-R132H-mutant immunophenotype and low subclonal allele frequency

Morgan KM, Danish S, Xiong Z

Intractable Rare Dis Res. 2022; 11(1):43-45.

DOI: 10.5582/irdr.2022.01019

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