Det komplekse kliniske billede ved arvelige mitokondriesygdomme

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningfagfællebedømt

Standard

Det komplekse kliniske billede ved arvelige mitokondriesygdomme. / Frederiksen, Anja Lisbeth; Nielsen, Morten Frost; Yderstræde, Knud; Vissing, John.

I: Ugeskrift for Laeger, Bind 176, Nr. 38, 15.09.2014, s. 1779-1783.

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningfagfællebedømt

Harvard

Frederiksen, AL, Nielsen, MF, Yderstræde, K & Vissing, J 2014, 'Det komplekse kliniske billede ved arvelige mitokondriesygdomme', Ugeskrift for Laeger, bind 176, nr. 38, s. 1779-1783.

APA

Frederiksen, A. L., Nielsen, M. F., Yderstræde, K., & Vissing, J. (2014). Det komplekse kliniske billede ved arvelige mitokondriesygdomme. Ugeskrift for Laeger, 176(38), 1779-1783.

Vancouver

Frederiksen AL, Nielsen MF, Yderstræde K, Vissing J. Det komplekse kliniske billede ved arvelige mitokondriesygdomme. Ugeskrift for Laeger. 2014 sep. 15;176(38):1779-1783.

Author

Frederiksen, Anja Lisbeth ; Nielsen, Morten Frost ; Yderstræde, Knud ; Vissing, John. / Det komplekse kliniske billede ved arvelige mitokondriesygdomme. I: Ugeskrift for Laeger. 2014 ; Bind 176, Nr. 38. s. 1779-1783.

Bibtex

@article{b3465ed94c404ba0a7ad15127d9d7d76,
title = "Det komplekse kliniske billede ved arvelige mitokondriesygdomme",
abstract = "Mitochondria produce cellular energy, which is of vital importance for cellular metabolism. The organelles contain their own genetic material (i.e. mitochondrial DNA (mtDNA)) with a matrilineal inheritance. Mutations in the mtDNA may cause mitochondrial disease affecting multiple organs leading to diabetes, hearing impairment, muscle fatigue, ptosis and stroke-like episodes in varying combinations and severity. The variable phenotypic presentations make it a challenge to recognize mitochondrial diseases and, consequently, the correct diagnosis is often delayed.",
author = "Frederiksen, {Anja Lisbeth} and Nielsen, {Morten Frost} and Knud Yderstr{\ae}de and John Vissing",
year = "2014",
month = sep,
day = "15",
language = "Dansk",
volume = "176",
pages = "1779--1783",
journal = "Ugeskrift for Laeger",
issn = "0041-5782",
publisher = "Almindelige Danske Laegeforening",
number = "38",

}

RIS

TY - JOUR

T1 - Det komplekse kliniske billede ved arvelige mitokondriesygdomme

AU - Frederiksen, Anja Lisbeth

AU - Nielsen, Morten Frost

AU - Yderstræde, Knud

AU - Vissing, John

PY - 2014/9/15

Y1 - 2014/9/15

N2 - Mitochondria produce cellular energy, which is of vital importance for cellular metabolism. The organelles contain their own genetic material (i.e. mitochondrial DNA (mtDNA)) with a matrilineal inheritance. Mutations in the mtDNA may cause mitochondrial disease affecting multiple organs leading to diabetes, hearing impairment, muscle fatigue, ptosis and stroke-like episodes in varying combinations and severity. The variable phenotypic presentations make it a challenge to recognize mitochondrial diseases and, consequently, the correct diagnosis is often delayed.

AB - Mitochondria produce cellular energy, which is of vital importance for cellular metabolism. The organelles contain their own genetic material (i.e. mitochondrial DNA (mtDNA)) with a matrilineal inheritance. Mutations in the mtDNA may cause mitochondrial disease affecting multiple organs leading to diabetes, hearing impairment, muscle fatigue, ptosis and stroke-like episodes in varying combinations and severity. The variable phenotypic presentations make it a challenge to recognize mitochondrial diseases and, consequently, the correct diagnosis is often delayed.

M3 - Tidsskriftartikel

C2 - 25294199

VL - 176

SP - 1779

EP - 1783

JO - Ugeskrift for Laeger

JF - Ugeskrift for Laeger

SN - 0041-5782

IS - 38

ER -

ID: 137372061