A compilation of national plans, policies and government actions for rare diseases in 23 countries.

Khosla N, Valdez R

Intractable Rare Dis Res. 2018; 7(4):213-222.

DOI: 10.5582/irdr.2018.01085

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A basic understanding of Turner syndrome: Incidence, complications, diagnosis, and treatment.

Cui XX, Cui YZ, Shi L, Luan J, Zhou XY, Han JX

Intractable Rare Dis Res. 2018; 7(4):223-228.

DOI: 10.5582/irdr.2017.01056

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Aging-associated latent herpes viral infection in normal Japanese individuals and patients with Werner syndrome.

Goto M, Chiba J, Matsuura M, Iwaki-Egawa S, Watanabe Y

Intractable Rare Dis Res. 2018; 7(4):229-235.

DOI: 10.5582/irdr.2018.01092

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Uptake and radiological findings of screening cerebral magnetic resonance scans in patients with hereditary haemorrhagic telangiectasia.

Fatania G, Gilson C, Glover A, Alsafi A, Jackson JE, Patel MC, Shovlin CL

Intractable Rare Dis Res. 2018; 7(4):236-244.

DOI: 10.5582/irdr.2018.01103

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Identification of a rare homozygous SZT2 variant due to uniparental disomy in a patient with a neurodevelopmental disorder.

Imaizumi T, Kumakura A, Yamamoto-Shimojima K, Ondo Y, Yamamoto T

Intractable Rare Dis Res. 2018; 7(4):245-250.

DOI: 10.5582/irdr.2018.01117

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Microglia express gamma-interferon-inducible lysosomal thiol reductase in the brains of Alzheimer's disease and Nasu-Hakola disease.

Satoh J, Kino Y, Yanaizu M, Ishida T, Saito Y

Intractable Rare Dis Res. 2018; 7(4):251-257.

DOI: 10.5582/irdr.2018.01119

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Spectrum and hematological profile of hereditary anemia in North Indians: SGPGI experience.

Tripathi P, Kumar R, Agarwal S

Intractable Rare Dis Res. 2018; 7(4):258-263.

DOI: 10.5582/irdr.2018.01093

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Filaggrin, major basic protein and leukotriene B4: Biomarkers for adult patients of bronchial asthma, atopic dermatitis and allergic rhinitis.

Bin Saif GA, Rasheed Z, Salama RH, Salem T, Ahmed AA, Zedan K, El-Moniem AA, Elkholy M, Al Robaee AA, Alzolibani AA

Intractable Rare Dis Res. 2018; 7(4):264-270.

DOI: 10.5582/irdr.2018.01111

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Prune belly syndrome: Approaches to its diagnosis and management.

Achour R, Bennour W, Ksibi I, Cheour M, Hamila T, Ben Hmid R, Kacem S

Intractable Rare Dis Res. 2018; 7(4):271-274.

DOI: 10.5582/irdr.2018.01094

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Ataxia with ocular apraxia type 2 not responding to 4-aminopyridine: A rare mutation in the SETX gene in a Saudi patient.

Algahtani H, Shirah B, Algahtani R, Naseer MI, Al-Qahtani MH, Abdulkareem AA

Intractable Rare Dis Res. 2018; 7(4):275-279.

DOI: 10.5582/irdr.2018.01107

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A case of leg cellulitis caused by multidrug-resistant Streptococcus pseudoporcinus.

Sawamura S, Niimori D, Ihn H

Intractable Rare Dis Res. 2018; 7(4):280-282.

DOI: 10.5582/irdr.2018.01110

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Intensive care unit-acquired complicated necrotizing pneumonia caused by Enterobacter cloacae: A case report.

Chou DW, Wu SL, Lee CT

Intractable Rare Dis Res. 2018; 7(4):283-286.

DOI: 10.5582/irdr.2018.01116

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Successful percutaneous treatment of coronary steal syndrome with the amplatzer vascular plug 4 and coil embolization.

Kahraman S, Agac MT, Demirci G, Gurbak I, Panc C, Yildiz M, Erturk M

Intractable Rare Dis Res. 2018; 7(4):287-290.

DOI: 10.5582/irdr.2018.01083

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System building and improvement for the diagnosis and treatment of rare diseases in Shanghai, China.

Kang Q, Hu JH, Song PP, He JJ

Intractable Rare Dis Res. 2018; 7(4):291-294.

DOI: 10.5582/irdr.2018.01129

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What is the Ocular phenotype associated with a dystrophin deletion of exons 12-29?

Brignol TN, Ventura DF

Intractable Rare Dis Res. 2018; 7(4):295-296.

DOI: 10.5582/irdr.2018.01120

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