Cost-effectiveness analysis of enzyme replacement therapy (ERT) for treatment of infantile-onset Pompe disease (IOPD) in the Iranian pharmaceutical market

Hashempour R, Davari M, Pourreza A, Alaei M, Ahmadi B

Intractable Rare Dis Res. 2020; 9(3):130-136.

DOI: 10.5582/irdr.2020.03028

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The challenge of managing comorbidities: a case report of primary Sjogren's syndrome in a patient with acute intermittent porphyria

Teng Q, Ma LY, Ma YL, Zhang YR, Kang NL, Hu YX, Zhang SY

Intractable Rare Dis Res. 2020; 9(3):137-140.

DOI: 10.5582/irdr.2020.03064

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An extremely rare combination of acute intermittent porphyria and Turner syndrome

Zhang SY, Wu JH, Teng Q, Zhang YR, Hu YX, Kang NL

Intractable Rare Dis Res. 2020; 9(3):141-144.

DOI: 10.5582/irdr.2020.03065

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array-CGH revealed gain of Yp11.2 in 49,XXXXY and gain of Xp22.33 in 48,XXYY karyotypes of two rare klinefelter variants

Dhangar S, Ghatanatti J, Vundinti BR

Intractable Rare Dis Res. 2020; 9(3):145-150.

DOI: 10.5582/irdr.2020.01026

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A novel variant c.3706C>T p.(Avg 1236Cys) in the ABCA7 gene in a Saudi patient with susceptibility to Alzheimer's disease 9

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

Intractable Rare Dis Res. 2020; 9(3):151-155.

DOI: 10.5582/irdr.2020.03033

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Benign adrenal and suprarenal retroperitoneal schwannomas can mimic aggressive adrenal malignancies: case report and review of the literature

Wilson MP, Katlariwala P, Huang J, Low G, Wiebe E

Intractable Rare Dis Res. 2020; 9(3):156-162.

DOI: 10.5582/irdr.2020.01027

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Successful endoscopic biopsy for Primary central nervous system lymphoma of the corpus callosum in the splenium with bilateral visuomotor ataxia

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

Intractable Rare Dis Res. 2020; 9(3):163-165.

DOI: 10.5582/irdr.2020.03003

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Pseudohypoparathyroidism presenting with seizures: a case report and literature review

Najim M, Hammamy R, Ashour M, Imameldin A

Intractable Rare Dis Res. 2020; 9(3):166-170.

DOI: 10.5582/irdr.2020.03014

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Tuberculous choroiditis masquerading as sympathetic ophthalmia: a case report

Huang XX, Qin XL, Luo ZY, Li LX, Hu JB

Intractable Rare Dis Res. 2020; 9(3):171-174.

DOI: 10.5582/irdr.2020.03015

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Cranial intraosseous angiolipoma: case report and literature review

Morgan KM, Hanft S, Xiong Z

Intractable Rare Dis Res. 2020; 9(3):175-178.

DOI: 10.5582/irdr.2020.03038

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Comprehensive Rare Disease Care model for screening and diagnosis of rare genetic diseases – an experience of private medical college and hospital, South India

Nilakantam SR, Bhat D, Ravi MD, Dayananda M, Basavanagowdappa H, Kumar KJ

Intractable Rare Dis Res. 2020; 9(3):179-183.

DOI: 10.5582/irdr.2020.03039

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An update on microRNAs as potential novel therapeutic targets in testicular germ cell tumors

De Martino M, Esposito F, Chieffi P

Intractable Rare Dis Res. 2020; 9(3):184-186.

DOI: 10.5582/irdr.2020.03025

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