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Journal of Medical Cases has been accepted for inclusion in PubMed
August 2, 2021
Journal of Medical Cases (, monthly, open access, has passed the Scientific Quality Review by NLM for PMC, and will be indexed in PubMed, PubMed Central. Content indexing starts from articles published in August 2019.

Journal of Medical Cases publishes original case reports (single case or case series) in all the clinical medicine disciplines. The cases submitted should be clinically important and contributing to the current knowledge of the relevant diseases, in the aspects of pathogenesis, prevention, diagnosis, treatment. Manuscripts should be prepared according to the CARE guidelines.


When to Consider an Inborn Error of Metabolism in Adults?
Martijn Brouwers, Division of Endocrinology and Metabolic Disease, Department of Internal Medicine, Maastricht University Medical Centre, Maastricht, the Netherlands

Inborn errors of metabolism (IEM) are a group of disorders that are often erroneously assumed to be the playing field of pediatricians only. This misconception combined with the rare nature of IEMs explains why there is often a serious delay in the diagnosis of an adult-onset IEM, which can have detrimental consequences. This review provides potential strategies to overcome this diagnostic delay. The most promising consists of stimulating critical clinical reasoning and creating awareness of the process that leads to the diagnosis of a rare disease.

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