Original languageEnglish
JournalNeonatology
Volume116
Issue number3
Pages (from-to)290–294
Number of pages5
ISSN1661-7800
DOIs
Publication statusPublished - Oct 2019

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Mitochondrial Diseases
Muscle Hypotonia
Brain Diseases
Acidosis
Early Diagnosis
Lactic Acid
Exome
Mutation
Fetal Growth Retardation
Hypertrophic Cardiomyopathy
Mitochondrial Proteins
Electron Transport Complex IV
Pedigree
Hypoglycemia
Energy Metabolism
Genes
Heart Failure
Newborn Infant
Phenotype
Proteins

Keywords

  • Hypoglycemia
  • Lactate acidosis
  • Mitochondrial disease
  • Novel SCO1 mutation

Cite this

@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 = "{\circledC} 2019 S. Karger AG, Basel.",
year = "2019",
month = "10",
doi = "10.1159/000499488",
language = "English",
volume = "116",
pages = "290–294",
journal = "Neonatology",
issn = "1661-7800",
publisher = "S. Karger AG",
number = "3",

}

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

N1 - © 2019 S. Karger AG, Basel.

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 -