Diagnostic criteria for respiratory chain disorders in adults and children.
about
NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiencyMitochondrial dysfunction in autism spectrum disorders: a systematic review and meta-analysisMitochondrial disorders in children: toward development of small-molecule treatment strategiesSleep disorders associated with primary mitochondrial diseasesPowering the immune system: mitochondria in immune function and deficiencyBiochemical diagnosis of mitochondrial disordersPrimary Mitochondrial Disease and Secondary Mitochondrial Dysfunction: Importance of Distinction for Diagnosis and TreatmentA Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex DeficienciesThe ketogenic diet component decanoic acid increases mitochondrial citrate synthase and complex I activity in neuronal cellsMitochondrial disease in autism spectrum disorder patients: a cohort analysisThiamine Deficiency-Mediated Brain Mitochondrial Pathology in Alaskan Huskies with Mutation in SLC19A3.1.Progress in Diagnosing Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like Episodes.Autonomic, functional, skeletal muscle, and cardiac abnormalities are associated with increased ergoreflex sensitivity in mitochondrial disease.Prevalence and natural history of heart disease in adults with primary mitochondrial respiratory chain disease.Analysis of mitochondrial DNA sequences in childhood encephalomyopathies reveals new disease-associated variantsThe in-depth evaluation of suspected mitochondrial diseaseIncreased prevalence of malignancy in adult mitochondrial disordersA plasma signature of human mitochondrial disease revealed through metabolic profiling of spent media from cultured muscle cellsThe use of neuroimaging in the diagnosis of mitochondrial disease.Long-term Developmental Trends of Pediatric Mitochondrial Diseases: The Five Stages of Developmental DeclineDegree of glutathione deficiency and redox imbalance depend on subtype of mitochondrial disease and clinical status.Bilateral hypertrophic olivary nucleus degeneration on magnetic resonance imaging in children with Leigh and Leigh-like syndrome.Functional characterization of Friedreich ataxia iPS-derived neuronal progenitors and their integration in the adult brain.Mutational analysis of whole mitochondrial DNA in patients with MELAS and MERRF diseases.Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease.High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiencyPsychiatric involvement in adult patients with mitochondrial disease.Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.Axial mitochondrial myopathy in a patient with rapidly progressive adult-onset scoliosis.New MT-ND6 and NDUFA1 mutations in mitochondrial respiratory chain disorders.Potential therapeutic use of the ketogenic diet in autism spectrum disordersMIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death.Neuroimaging of mitochondrial disease.Sleep disordered breathing in children with mitochondrial disease.A new phenotype of mitochondrial disease characterized by familial late-onset predominant axial myopathy and encephalopathy.Targeted exome sequencing for mitochondrial disorders reveals high genetic heterogeneity.Approach to neurometabolic diseases from a pediatric neurological point of view.Respiratory chain complex I deficiency caused by mitochondrial DNA mutations.Genetics and mitochondrial abnormalities in autism spectrum disorders: a review.Autism and intellectual disability associated with mitochondrial disease and hyperlactacidemia.
P2860
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P2860
Diagnostic criteria for respiratory chain disorders in adults and children.
description
2002 nî lūn-bûn
@nan
2002年の論文
@ja
2002年学术文章
@wuu
2002年学术文章
@zh
2002年学术文章
@zh-cn
2002年学术文章
@zh-hans
2002年学术文章
@zh-my
2002年学术文章
@zh-sg
2002年學術文章
@yue
2002年學術文章
@zh-hant
name
Diagnostic criteria for respiratory chain disorders in adults and children.
@en
Diagnostic criteria for respiratory chain disorders in adults and children.
@nl
type
label
Diagnostic criteria for respiratory chain disorders in adults and children.
@en
Diagnostic criteria for respiratory chain disorders in adults and children.
@nl
prefLabel
Diagnostic criteria for respiratory chain disorders in adults and children.
@en
Diagnostic criteria for respiratory chain disorders in adults and children.
@nl
P2093
P1433
P1476
Diagnostic criteria for respiratory chain disorders in adults and children
@en
P2093
P304
P356
10.1212/01.WNL.0000033795.17156.00
P407
P577
2002-11-01T00:00:00Z