Abstract
This article is the third and last in a series entitled The Finnish Disease Heritage I–III. All the 36 rare hereditary diseases belonging to this entity are described for clinical and molecular genetic purposes, based on the Finnish experience gathered over a period of half a century. In addition, five other diseases are mentioned. They may be included in the list of the "Finnish diseases" after adequate complementary studies.
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Abbreviations
- AFP:
-
alpha-fetoprotein
- CT:
-
computed tomography
- ECG:
-
electrocardiography
- EEG:
-
electroencephalography
- ENMG:
-
electroneuromyography
- ERG:
-
electroretinography
- HUCH:
-
Helsinki University Central Hospital
- MBD:
-
minimal brain dysfunction
- MIM:
-
Mendelian Inheritance of Man (McKusick)
- MRI:
-
magnetic resonance imaging
- OUH:
-
Oulu University Hospital
- SEP:
-
somatosensory evoked potential
- SPECT:
-
single photon emission computed tomography
- TUH:
-
Turku University Hospital
- VEP:
-
visual evoked potential
References
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Acknowledgements
My warmest thanks to all the expert doctors for the patient data and for checking the manuscript on their respective section; to Markku Löytönen, Mari Markkanen-Leppänen and Publishing Company Otava for the figures; to Kari Markovaara, Jonna Mervelä, Taina Miikkulainen, Liisa Savolainen, and Leena Toivanen for their everlasting patience in different kinds of support, and to the Finnish Cultural Foundation for the grants.
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Norio, R. The Finnish disease heritage III: the individual diseases. Hum Genet 112, 470–526 (2003). https://doi.org/10.1007/s00439-002-0877-1
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DOI: https://doi.org/10.1007/s00439-002-0877-1