Valuing Mundane Manifestations of Rare, but Underdiagnosed, Diseases in Portugal: The Example of McArdle Disease

António Mateus-Pinheiro; Tiago Costa; Hélder Esperto; Sónia Moreira

doi:10.20344/amp.19315

Valuing Mundane Manifestations of Rare, but Underdiagnosed, Diseases in Portugal: The Example of McArdle Disease

Authors

António Mateus-Pinheiro Internal Medicine Department. Centro Hospitalar e Universitário de Coimbra. Coimbra; Reference Centre for Hereditary and Metabolic Diseases. Centro Hospitalar e Universitário de Coimbra. Coimbra; Faculdade de Medicina. Universidade de Coimbra. Coimbra. https://orcid.org/0000-0002-5534-4332
Tiago Costa Internal Medicine Department. Centro Hospitalar e Universitário de Coimbra. Coimbra; Reference Centre for Hereditary and Metabolic Diseases. Centro Hospitalar e Universitário de Coimbra. Coimbra; Faculdade de Medicina. Universidade de Coimbra. Coimbra.
Hélder Esperto Internal Medicine Department. Centro Hospitalar e Universitário de Coimbra. Coimbra; Reference Centre for Hereditary and Metabolic Diseases. Centro Hospitalar e Universitário de Coimbra. Coimbra; Faculdade de Medicina. Universidade de Coimbra. Coimbra.
Sónia Moreira Internal Medicine Department. Centro Hospitalar e Universitário de Coimbra. Coimbra; Reference Centre for Hereditary and Metabolic Diseases. Centro Hospitalar e Universitário de Coimbra. Coimbra; Faculdade de Medicina. Universidade de Coimbra. Coimbra.

DOI:

https://doi.org/10.20344/amp.19315

Keywords:

Glycogen Storage Disease Type V/diagnosis, Glycogen Storage Disease Type V/epidemiology, Portugal

Abstract

N/a.

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References

Leite A, Oliveira N, Rocha M. McArdle disease: a case report and review. Int Med Case Rep J. 2012;5:1–4. 2012;5:1–4. DOI: https://doi.org/10.2147/IMCRJ.S28664

Costa R, Castro R, Costa A, Taipa R, Vizcaíno R, Morgado T. Lesão renal aguda e rabdomiólise como apresentação da doença de McArdle. Acta Med Port. 2013;26:463–6. DOI: https://doi.org/10.20344/amp.396

Ferreira MA, Guimas A, Faria R. McArdle’s disease in the seventh decade: challenges in diagnosis and management. Endocrine. 2014;47:340–1. DOI: https://doi.org/10.1007/s12020-014-0168-3

Pinto H, Teixeira AC, Oliveira N, Alves R. Wave of renal impairment. BMJ Case Rep. 2018;2018:bcr-2017-223437. DOI: https://doi.org/10.1136/bcr-2017-223437

Llavero F, Arrazola Sastre A, Luque Montoro M, Gálvez P, Lacerda HM, Parada LA, et al. McArdle disease: new insights into its underlying molecular mechanisms. Int J Mol Sci. 2019;20:5919. DOI: https://doi.org/10.3390/ijms20235919

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Published

2023-03-01

How to Cite

Mateus-Pinheiro A, Costa T, Esperto H, Moreira S. Valuing Mundane Manifestations of Rare, but Underdiagnosed, Diseases in Portugal: The Example of McArdle Disease. Acta Med Port [Internet]. 2023 Mar. 1 [cited 2026 Jun. 6];36(3):220-2. Available from: https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/19315

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Issue

Vol. 36 No. 3 (2023): March

Section

Letters to the Editor

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