Presentation and diagnosis of mitochondrial disorders in children.
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Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndromeMitochondrial disease in autism spectrum disorder patients: a cohort analysisGenetic Evidence for Elevated Pathogenicity of Mitochondrial DNA Heteroplasmy in Autism Spectrum DisorderThe neuroimaging of Leigh syndrome: case series and review of the literature.Myocardial atrophy in children with mitochondrial disease and Duchenne muscular dystrophy.Sleep disordered breathing in children with mitochondrial disease.Autism and intellectual disability associated with mitochondrial disease and hyperlactacidemia.Point-of-care capillary blood lactate measurements in human immunodeficiency virus-uninfected children with in utero exposure to human immunodeficiency virus and antiretroviral medicationsDeletion of a 4977-bp Fragment in the Mitochondrial Genome Is Associated with Mitochondrial Disease SeverityThe cellular and molecular progression of mitochondrial dysfunction induced by 2,4-dinitrophenol in developing zebrafish embryosZebrafish lacking functional DNA polymerase gamma survive to juvenile stage, despite rapid and sustained mitochondrial DNA depletion, altered energetics and growthMucosal necrosis of the small intestine in myopathy, encephalopathy, lactic acidosis, and stroke-like episodes syndrome.Leigh Syndrome in Childhood: Neurologic Progression and Functional OutcomeDiagnostic value of MRS-quantified brain tissue lactate level in identifying children with mitochondrial disorders.Mitochondrial cardiomyopathy: pathophysiology, diagnosis, and management.Inherited Structural Heart Diseases With Potential Atrial Fibrillation Occurrence.Underlying role of mitochondrial mutagenesis in the pathogenesis of a disease and current approaches for translational research.Myopathology of Adult and Paediatric Mitochondrial Diseases.Low prevalence of patients with mitochondrial disease in the German/Austrian DPV diabetes registry.Decreased exhaled nitric oxide levels in patients with mitochondrial disordersProgress in understanding mitochondrial disorders.Honokiol, an activator of Sirtuin-3 (SIRT3) preserves mitochondria and protects the heart from doxorubicin-induced cardiomyopathy in mice.Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defectA Diagnostic Algorithm for Mitochondrial Disorders in Estonian ChildrenMitochondrial Disorder Aggravated by Metoprolol.Quality improvement of mitochondrial respiratory chain complex enzyme assays using Caenorhabditis elegans.Autism spectrum disorders associated to a deficiency of the enzymes of the mitochondrial respiratory chain.A mitochondrial DNA deletion presenting with corneal clouding and severe Fanconi syndrome.Feeding difficulties, a key feature of the Drosophila NDUFS4 mitochondrial disease model.Blood Mononuclear Cell Mitochondrial Respiratory Chain Complex IV Activity Is Decreased in Multiple Sclerosis Patients: Effects of β-Interferon Treatment.Understanding mitochondrial myopathies: a review.Endocrine Disorders in Primary Mitochondrial Disease.Maxwell's demon at work: Mitochondria, the organelles that convert information into energy?Analysis of Mitochondrial Network Morphology in Cultured Myoblasts from Patients with Mitochondrial DisordersWhole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause
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Presentation and diagnosis of mitochondrial disorders in children.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on May 2008
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Presentation and diagnosis of mitochondrial disorders in children.
@en
Presentation and diagnosis of mitochondrial disorders in children.
@nl
type
label
Presentation and diagnosis of mitochondrial disorders in children.
@en
Presentation and diagnosis of mitochondrial disorders in children.
@nl
prefLabel
Presentation and diagnosis of mitochondrial disorders in children.
@en
Presentation and diagnosis of mitochondrial disorders in children.
@nl
P2860
P1433
P1476
Presentation and diagnosis of mitochondrial disorders in children.
@en
P2093
Mary Kay Koenig
P2860
P304
P356
10.1016/J.PEDIATRNEUROL.2007.12.001
P577
2008-05-01T00:00:00Z