Mitochondrial Disease Caused by a Novel Homozygous Mutation (Gly106del) in the SCO1 Gene

Ninna Brix; Janni Majgaard Jensen; Inge Søkilde Pedersen; Anja Ernst; Simon Frost; Pauline Bogaard; Michael B Petersen; Lars Bender

doi:10.1159/000499488

Mitochondrial Disease Caused by a Novel Homozygous Mutation (Gly106del) in the SCO1 Gene

Ninna Brix, Janni Majgaard Jensen, Inge Søkilde Pedersen, Anja Ernst, Simon Frost, Pauline Bogaard, Michael B Petersen, Lars Bender

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

5 Citationer (Scopus)

Originalsprog	Engelsk
Tidsskrift	Neonatology
Vol/bind	116
Udgave nummer	3
Sider (fra-til)	290–294
Antal sider	5
ISSN	1661-7800
DOI	https://doi.org/10.1159/000499488
Status	Udgivet - okt. 2019

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Citationsformater

@article{b6a25dfdd9174d16a573a0320f97f425,

title = "Mitochondrial Disease Caused by a Novel Homozygous Mutation (Gly106del) in the SCO1 Gene",

keywords = "Hypoglycemia, Lactate acidosis, Mitochondrial disease, Novel SCO1 mutation",

author = "Ninna Brix and Jensen, {Janni Majgaard} and Pedersen, {Inge S{\o}kilde} and Anja Ernst and Simon Frost and Pauline Bogaard and Petersen, {Michael B} and Lars Bender",

note = "{\textcopyright} 2019 S. Karger AG, Basel.",

year = "2019",

month = oct,

doi = "10.1159/000499488",

language = "English",

volume = "116",

pages = "290–294",

journal = "Neonatology",

issn = "1661-7800",

publisher = "S. Karger AG",

number = "3",

}

Mitochondrial Disease Caused by a Novel Homozygous Mutation (Gly106del) in the SCO1 Gene. / Brix, Ninna ; Jensen, Janni Majgaard ; Pedersen, Inge Søkilde ; Ernst, Anja ; Frost, Simon ; Bogaard, Pauline; Petersen, Michael B; Bender, Lars.

I: Neonatology, Bind 116, Nr. 3, 10.2019, s. 290–294.

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

TY - JOUR

T1 - Mitochondrial Disease Caused by a Novel Homozygous Mutation (Gly106del) in the SCO1 Gene

AU - Brix, Ninna

AU - Jensen, Janni Majgaard

AU - Pedersen, Inge Søkilde

AU - Ernst, Anja

AU - Frost, Simon

AU - Bogaard, Pauline

AU - Petersen, Michael B

AU - Bender, Lars

PY - 2019/10

Y1 - 2019/10

KW - Hypoglycemia

KW - Lactate acidosis

KW - Mitochondrial disease

KW - Novel SCO1 mutation

UR - http://www.scopus.com/inward/record.url?scp=85070490459&partnerID=8YFLogxK

U2 - 10.1159/000499488

DO - 10.1159/000499488

M3 - Journal article

C2 - 31352446

VL - 116

SP - 290

EP - 294

JO - Neonatology

JF - Neonatology

SN - 1661-7800

IS - 3

ER -

Mitochondrial Disease Caused by a Novel Homozygous Mutation (Gly106del) in the SCO1 Gene

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