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Items: 1 to 20 of 365


Multiphasic acute disseminated encephalomyelitis and differential with early onset multiple sclerosis.

Stokes Brackett AC, Hernández-Fustes OJ, Arteaga Rodríguez C, Hernandez Fustes OJ.

Intractable Rare Dis Res. 2020 Feb;9(1):61-63. doi: 10.5582/irdr.2020.01009.


High prevalence of congenital generalized lipodystrophy in Piura, Peru.

Purizaca-Rosillo ND, Benites-Cóndor YE, Abarca Barriga H, Del Águila Villar C, Chávez Pastor M, Franco Palacios L, Olea Zapata R, Rejas Parodi J, Martinez Uceda L, Chavesta Velásquez F, Gamarra Vilela J, Arámbulo Castillo S, Ávila Reyes A.

Intractable Rare Dis Res. 2020 Feb;9(1):58-60. doi: 10.5582/irdr.2020.01004.


Nitrous oxide recreational abuse presenting with myeloneuropathy and mimicking Guillain-Barre syndrome.

Algahtani H, Shirah B, Abdelghaffar N, Abuhawi O, Alqahtani A.

Intractable Rare Dis Res. 2020 Feb;9(1):54-57. doi: 10.5582/irdr.2020.01007.


Characterization of a novel pathogenic variation c.1237T>G in the FZD4 gene presenting new inheritance from an Iranian individual suffering vitreoretinopathy.

Zamani M, Shariati G, Seifi T, Sedaghat A, Galehdari H.

Intractable Rare Dis Res. 2020 Feb;9(1):48-53. doi: 10.5582/irdr.2019.01109.


Replication study of four keloid-associated polymorphisms in patients of European descent - a single centre study.

Dmytrzak A, Boroń A, Łoniewska B, Clark JSC, Kaczmarczyk M, Ciechanowicz A.

Intractable Rare Dis Res. 2020 Feb;9(1):40-42. doi: 10.5582/irdr.2020.01013.


Health assessment of patients with achondroplasia, pseudoachondroplasia, and rickets based on 3D non-linear diagnostics.

Zhang J, Lu Y, Wang Y, Li T, Peng C, Zhang S, Gao Q, Li W, Liu C, Han J.

Intractable Rare Dis Res. 2020 Feb;9(1):35-39. doi: 10.5582/irdr.2020.01019.


TXNDC5 protects synovial fibroblasts of rheumatoid arthritis from the detrimental effects of endoplasmic reticulum stress.

Lu Q, Wang J, Zhang X, Tian R, Qiao L, Ge L, Pan J, Wang L.

Intractable Rare Dis Res. 2020 Feb;9(1):23-29. doi: 10.5582/irdr.2019.01139.


Comprehensive bioinformatic analysis of Wnt1 and Wnt1-associated diseases.

Peng C, Lu Y, Ren X, Wang Y, Zhang S, Chen M, Liu J, Fang F, Li T, Han J.

Intractable Rare Dis Res. 2020 Feb;9(1):14-22. doi: 10.5582/irdr.2020.01018.


Advances in stem cell therapy for the treatment of Peyronie's disease.

Moussa M, Abou Chakra M, Moussa Y.

Intractable Rare Dis Res. 2020 Feb;9(1):10-13. doi: 10.5582/irdr.2019.01130. Review.


A basic understanding of mucopolysaccharidosis: Incidence, clinical features, diagnosis, and management.

Zhou J, Lin J, Leung WT, Wang L.

Intractable Rare Dis Res. 2020 Feb;9(1):1-9. doi: 10.5582/irdr.2020.01011. Review.


Successful anaesthesia management of a child with hunter syndrome for adenotonsillectomy.

Punj J, Kaler P, Ankalagi B, Prasad A, Sinha R, Sagar P.

Intractable Rare Dis Res. 2019 Nov;8(4):286-288. doi: 10.5582/irdr.2019.01072.


A curious case of disseminated cysticercosis in an immunocompetent adult.

Latif A, Kapoor V, Weum B, Mirza M, Velagapudi M.

Intractable Rare Dis Res. 2019 Nov;8(4):283-285. doi: 10.5582/irdr.2019.01093.


Anaplastic glioneuronal tumor with KIAA1549/BRAF fusion.

Liu L, Narayan P, Xiong J, Xiong Z.

Intractable Rare Dis Res. 2019 Nov;8(4):279-282. doi: 10.5582/irdr.2019.01118.


A case of recurrent progressive multifocal leukoencephalopathy after human stem cell transplant, with detection of John Cunningham virus and human herpesvirus 6 on cerebrospinal fluid, treated with Mirtazapine, Olanzapine and Foscarnet.

Pasca M, Picchioni A, Mazzeo S, Terenzi F, Prestipino E, Fratangelo R, Repice AM, Carlucci G, Massacesi L, Barilaro A.

Intractable Rare Dis Res. 2019 Nov;8(4):275-278. doi: 10.5582/irdr.2019.01107.


Malignant transformation of hepatic adenoma complicated by rupture and hemorrhage: An extremely rare clinical entity.

Mathew RP, Manolea F, Girgis S, Patel V, Low G.

Intractable Rare Dis Res. 2019 Nov;8(4):266-270. doi: 10.5582/irdr.2019.01089.


Microglia express TMEM119 in the brains of Nasu-Hakola disease.

Satoh JI, Kino Y, Yanaizu M, Ishida T, Saito Y.

Intractable Rare Dis Res. 2019 Nov;8(4):260-265. doi: 10.5582/irdr.2019.01123.


Medical students' knowledge and opinions about rare diseases: A case study from Poland.

Domaradzki J, Walkowiak D.

Intractable Rare Dis Res. 2019 Nov;8(4):252-259. doi: 10.5582/irdr.2019.01099.

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