Acute intermittent porphyria: focus on possible mechanisms of acute and chronic manifestations

Ma YL, Teng Q, Zhang YR, Zhang SY

Intractable Rare Dis Res. 2020; 9(4):187-195.

DOI: 10.5582/irdr.2020.03054

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Recent advances in the epidemiology and genetics of acute intermittent porphyria

Ma LY, Tian Y, Peng CX, Zhang YR, Zhang SY

Intractable Rare Dis Res. 2020; 9(4):196-204.

DOI: 10.5582/irdr.2020.03082

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Therapeutic strategies for acute intermittent porphyria

Zhao LL, Wang XY, Zhang XN, Liu XT, Ma NZ, Zhang YR, Zhang SY

Intractable Rare Dis Res. 2020; 9(4):205-216.

DOI: 10.5582/irdr.2020.03089

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Reactive astrocytes express Aggregatin (FAM222A) 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. 2020; 9(4):217-221.

DOI: 10.5582/irdr.2020.03080

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Two new missense mutations in the protein interaction ASH domain of OCRL1 identified in patients with Lowe syndrome

Perdomo-Ramirez A, Antón-Gamero M, Sakaguchi Rizzo D, Trindade A, Ramos-Trujillo E, Claverie-Martin F

Intractable Rare Dis Res. 2020; 9(4):222-228.

DOI: 10.5582/irdr.2020.03092

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Genetic variant affecting the myosin light chain 2 related to familial hypertrophic cardiomyopathy

Saldarriaga W, Ávila LA, Vásquez MA, Betancourt M, Valencia C

Intractable Rare Dis Res. 2020; 9(4):229-232.

DOI: 10.5582/irdr.2020.03042

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Primary neuroendocrine carcinoma of the breast: a rare presentation and review of the literature

Salemis NS

Intractable Rare Dis Res. 2020; 9(4):233-246.

DOI: 10.5582/irdr.2020.03046

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Cortical deafness as a sequela to meningitis: a single case study

Sasidharan M, Elsa Itty J, Hinduja G, Hasna S, Priya D

Intractable Rare Dis Res. 2020; 9(4):247-250.

DOI: 10.5582/irdr.2020.03072

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Primary leiomyoma of the liver in an immunocompetent patient

Coletta D, Parrino C, Nicosia S, Manzi E, Pattaro G, Oddi A, D’Annibale M, Marino M, Grazi GL

Intractable Rare Dis Res. 2020; 9(4):251-255.

DOI: 10.5582/irdr.2020.03075

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A case of coronavirus disease 2019 in acquired immunodeficiency syndrome patient: a case report and review of the literature

Qasim A, Mansour M, Kousa O, Awad D, Abuhazeem B, Millner P, Velagapudi M

Intractable Rare Dis Res. 2020; 9(4):256-259.

DOI: 10.5582/irdr.2020.03081

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Intraventricular pilocytic astrocytoma in an adult patient

Hendrix J, Xiong Z

Intractable Rare Dis Res. 2020; 9(4):260-262.

DOI: 10.5582/irdr.2020.03088

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Primary cutaneous follicle center lymphoma of the breast: Management of an exceedingly rare malignancy

Salemis NS, Koliarakis N, Spiliopoulos K, Kimpouri K, Marinos L

Intractable Rare Dis Res. 2020; 9(4):263-265.

DOI: 10.5582/irdr.2020.03095

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