UNIGE document Scientific Article
previous document  unige:98399  next document
add to browser collection
Title

L’interniste face aux maladies rares : quand y penser ? L’exemple des maladies mitochondriales

Authors
Nuoffer, Jean-Marc
Schaller, A
show hidden authors show all authors [1 - 10]
Published in Revue médicale suisse. 2017, vol. 13, no. 546, p. 159-163
Abstract 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.
Identifiers
PMID: 28703515
Full text
Article (Published version) (144 Kb) - document accessible for UNIGE members only Limited access to UNIGE
Structures
Citation
(ISO format)
TRAN, Christel et al. L’interniste face aux maladies rares : quand y penser ? L’exemple des maladies mitochondriales. In: Revue médicale suisse, 2017, vol. 13, n° 546, p. 159-163. https://archive-ouverte.unige.ch/unige:98399

76 hits

0 download

Update

Deposited on : 2017-11-01

Export document
Format :
Citation style :