Perspectives on urological care in multiple sclerosis patients

Moussa M, Abou Chakra M, Papatsoris AG, Dabboucy B, Hsieh M, Dellis A, Fares Y

Intractable Rare Dis Res. 2021; 10(2):62-74.

DOI: 10.5582/irdr.2021.01029

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Surgical treatment of scoliosis in Ullrich Congenital Muscular Dystrophy: a case series of 3 patients

Faldini C, Viroli G, Fiore M, Barile F, Manzetti M, Merlini L, Ruffilli A

Intractable Rare Dis Res. 2021; 10(2):75-80.

DOI: 10.5582/irdr.2020.03162

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The prevalence and patterns of chromosome abnormalities in newborns with major congenital anomalies: A retrospective study from Saudi Arabia

El-Attar LM, Bahashwan AA, Bakhsh AD, Moshrif YM

Intractable Rare Dis Res. 2021; 10(2):81-87.

DOI: 10.5582/irdr.2021.01016

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Novel mutations of epidermolysis bullosa identified using wholeexome sequencing in Indonesian Javanese patients

Widhiati S, Danarti R, Trisnowati N, Purnomosari D, Wibawa T, Soebono H

Intractable Rare Dis Res. 2021; 10(2):88-94.

DOI: 10.5582/irdr.2020.03150

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A case series of adult patients affected by EAST/SeSAME syndrome suggests more severe disease in subjects bearing KCNJ10 truncating mutations

Suzumoto Y, Columbano V, Gervasi L, Giunta R, Mattina T, Trimarchi G, Capolongo G, Simeoni M, Perna AF, Zacchia M, TorielloG, Pollastro RM, Rapisarda F, Capasso G, Trepiccione F

Intractable Rare Dis Res. 2021; 10(2):95-101.

DOI: 10.5582/irdr.2020.03158

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A novel BICD2 mutation of a patient with Spinal Muscular Atrophy Lower Extremity Predominant 2

Tumurkhuu M, Batbuyan U, Yuzawa S, Munkhsaikhan Y, Batmunkh G, Nishimura W

Intractable Rare Dis Res. 2021; 10(2):102-108.

DOI: 10.5582/irdr.2021.01004

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Loss of miR-23a cluster in skeletal muscle can suppress bone remodeling

Zhang H, Luan J, Cui Y, Han J

Intractable Rare Dis Res. 2021; 10(2):109-113.

DOI: 10.5582/irdr.2021.01054

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Clinical manifestation and genetic analysis of familial rare disease genodermatosis xeroderma pigmentosum

Yuniati R, Sihombing NRB, Nauphar D, Tiawarman B, Kartikasari DS, Dewi M, Faradz SMH

Intractable Rare Dis Res. 2021; 10(2):114-121.

DOI: 10.5582/irdr.2020.03143

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Rituximab use for refractory anti-HMGCR immune-mediated necrotizing myopathy: A case report

Gupta S, Rakhra A, Thallapally V, Nahas J

Intractable Rare Dis Res. 2021; 10(2):122-125.

DOI: 10.5582/irdr.2020.03144

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Saccharopinuria accompanied by hyperammonemia and hypercitrullinemia presented with elderly-onset epilepsy, progressive cognitive decline, and gait ataxia

Norioka R, Tobisawa S, Nishigori R, Kuhara T, Yazaki M, Nagao M, Ohura T, Takai Y, Funai A,Miyamoto K, Kawata A, Takahashi K

Intractable Rare Dis Res. 2021; 10(2):126-130.

DOI: 10.5582/irdr.2021.01003

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Synchronous occurrence of breast cancer and refractory diffuse large B-cell abdominal lymphoma: Management and review of the literature

Salemis NS

Intractable Rare Dis Res. 2021; 10(2):131-135.

DOI: 10.5582/irdr.2021.01017

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New insights on fibrodysplasia ossificans progressiva: discussion of an autoptic case report and brief literature review

Bolcato V, Carelli C, Visonà SD, Reguzzoni M, Di Rocco M, Radogna A, Tronconi LP, Moretti M

Intractable Rare Dis Res. 2021; 10(2):136-141.

DOI: 10.5582/irdr.2021.01021

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Icatibant promotes patients' behavior modification associated with emergency room visits during an acute attack of hereditary angioedema

Honda D, Ohsawa I, Mano S, Rinno H, Tomino Y, Suzuki Y

Intractable Rare Dis Res. 2021; 10(2):142-145.

DOI: 10.5582/irdr.2021.01010

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Orphan drugs in different countries and development of new drugs to treat biliary tract cancer

Cheng HH, Zhou D, Wang SH, Ding Jun, Ma F

Intractable Rare Dis Res. 2021; 10(2):146-147.

DOI: 10.5582/irdr.2021.01038

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