[Raising the internist's know-how in the field of rare diseases: mitochondrial diseases as an illustrative example].

Tran, Christel; Serratrice, Jacques; Nuoffer, Jean-Marc; Schaller, André; Favrat, Bernard; Barbey, Frederic; Lobrinus, J Alexander; Kern, Ilse; Kuntzer, Thierry; Ballhausen, Diana (2017). [Raising the internist's know-how in the field of rare diseases: mitochondrial diseases as an illustrative example]. Revue médicale suisse, 13(546), pp. 159-163. Médecine & Hygiène

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Rare Diseases, defined by a prevalence of less than 1 per 2000 persons, affect 36 million people in Europe, 500 000 in Switzerland, corresponding to 6-8% of the general population. 7000 rare diseases are currently recorded.Mitochondrial diseases are a heterogeneous group of genetic diseases. They are characterized by intracellular failure of energy production and affect predominantly energy-dependent tissues. The clinical presentation is not always suggestive, particularly in adulthood. In order to reach the diagnosis, a prerequisite is to think of them. In this article, we will focus on the clinical aspects of mitochondrial disorders in order to give the internist simple tools on how not to miss those rare diseases in his daily practice.

Item Type:

Journal Article (Further Contribution)


04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine
04 Faculty of Medicine > Pre-clinic Human Medicine > BioMedical Research (DBMR) > Unit Childrens Hospital > Forschungsgruppe Humangenetik
04 Faculty of Medicine > Department of Haematology, Oncology, Infectious Diseases, Laboratory Medicine and Hospital Pharmacy (DOLS) > Institute of Clinical Chemistry

UniBE Contributor:

Nuoffer, Jean-Marc and Schaller, André


600 Technology > 610 Medicine & health




Médecine & Hygiène




Anette van Dorland

Date Deposited:

06 Mar 2018 16:31

Last Modified:

20 Jul 2022 10:01

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PubMed ID:


Additional Information:

Falsche Affiliationen auf der Originalpublikation angegeben. Korrekte Affiliation von Schaller, André und Nuoffer, Jean-Marc: Universitätsklinik für Kinderheilkunde



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