A basic understanding of congenital extrahepatic portosystemic shunt: incidence, mechanism, complications, diagnosis, and treatment

Tang HW, Song PP, Wang ZQ, Han B, Meng XF, Pan YW, Meng X, Duan WD

Intractable Rare Dis Res. 2020; 9(2):64-70.

DOI: 10.5582/irdr.2020.03005

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Update on cystine stones: current and future concepts in treatment

Moussa M, Papatsoris AG, Abou Chakra M, Moussa Y

Intractable Rare Dis Res. 2020; 9(2):71-78.

DOI: 10.5582/irdr.2020.03006

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Performance of matching methods in studies of rare diseases: a simulation study

Cenzer I, Boscardin WJ, Berger K

Intractable Rare Dis Res. 2020; 9(2):79-88.

DOI: 10.5582/irdr.2020.01016

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Association between antinuclear antibodies (ANA) patterns and extractable nuclear antigens (ENA) in HEp-2 cells in patients with autoimmune diseases in Riyadh, Saudi Arabia

Alsubki R, Tabassum H, Alfawaz H, Alaqil R, Aljaser F, Ansar S, Al Jurayyan A

Intractable Rare Dis Res. 2020; 9(2):89-94.

DOI: 10.5582/irdr.2020.03012

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Identification of novel compound heterozygous mutations of the DYNC2H1 gene in a fetus with short-rib thoracic dysplasia 3 with or without polydactyly

Geng K, Mu K, Zhao Y, Luan J, Cui Y, Han J

Intractable Rare Dis Res. 2020; 9(2):95-98.

DOI: 10.5582/irdr.2020.01031

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Increased CD27 expression in the skins and sera of patients with systemic sclerosis

Oshikawa Y, Makino T, Nakayama M, Sawamura S, Makino K, Kajihara I, Aoi J, Masuguchi S, Fukushima S, Ihn H

Intractable Rare Dis Res. 2020; 9(2):99-103.

DOI: 10.5582/irdr.2020.03017

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Reporting one very rare pathogenic variation c.1106G>A in POMT2 gene

Mahjoub G, Faghihi MA, Taghdiri M

Intractable Rare Dis Res. 2020; 9(2):104-108.

DOI: 10.5582/irdr.2020.03013

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A novel frame shift mutation in STIM1 gene causing primary immunodeficiency

Derakhshan D, Taherifard E, Taherifard E, Sajedianfard S, Derakhshan A

Intractable Rare Dis Res. 2020; 9(2):109-112.

DOI: 10.5582/irdr.2020.01020

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Fragile X associated neuropsychiatric disorders in a male without FXTAS

Cabal-Herrera AM, Saldarriaga-Gil W, Salcedo-Arellano MJ, Hagerman RJ

Intractable Rare Dis Res. 2020; 9(2):113-118.

DOI: 10.5582/irdr.2020.01028

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Efficacy of trazodone for treating paroxysmal sympathetic hyperactivity presenting after left temporal subcortical hemorrhage

Morinaga Y, Nii K, Hanada H, Sakamoto K, Inoue R, Mitsutake T

Intractable Rare Dis Res. 2020; 9(2):119-122.

DOI: 10.5582/irdr.2020.01021

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Successful early diagnosis and treatment of non-convulsive status epilepticus-induced Takotsubo syndrome

Morinaga Y, Nii K, Sakamoto K, Inoue R, Mitsutake T, Hanada H

Intractable Rare Dis Res. 2020; 9(2):123-125.

DOI: 10.5582/irdr.2020.01024

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Food intolerance/malabsorption may occur in rare diseases

Schnedl WJ, Tillich M, Schenk M, Enko D, Mangge H

Intractable Rare Dis Res. 2020; 9(2):126-129.

DOI: 10.5582/irdr.2020.01029

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