Published in Paediatr Anaesth on January 01, 2007
Isoflurane anesthetic hypersensitivity and progressive respiratory depression in a mouse model with isolated mitochondrial complex I deficiency. J Anesth (2014) 1.40
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Pulmonary artery hypertension in a child with MELAS due to a point mutation of the mitochondrial tRNA((Leu)) gene (m.3243A>G). J Inherit Metab Dis (2008) 0.95
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Potentially diagnostic electron paramagnetic resonance spectra elucidate the underlying mechanism of mitochondrial dysfunction in the deoxyguanosine kinase deficient rat model of a genetic mitochondrial DNA depletion syndrome. Free Radic Biol Med (2016) 0.81
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Combined monitored anesthesia care and femoral nerve block for muscle biopsy in children with myopathies. Paediatr Anaesth (2008) 0.75
Anesthetic Management of a Child With Unspecified Mitochondrial Disease in an Outpatient Dental Setting. Anesth Prog (2017) 0.75
Anesthesia care for muscle biopsy in children with myopathies. Paediatr Anaesth (2009) 0.75
Increased mitochondrial ATP production capacity in brain of healthy mice and a mouse model of isolated complex I deficiency after isoflurane anesthesia. J Inherit Metab Dis (2015) 0.75
The child with glutaric aciduria type I: anesthetic and perioperative management. J Anesth (2011) 0.75
Role of mitochondrial complex I and protective effect of CoQ10 supplementation in propofol induced cytotoxicity. J Bioenerg Biomembr (2016) 0.75
A review of anaesthetic outcomes in patients with genetically confirmed mitochondrial disorders. Eur J Pediatr (2016) 0.75
FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study. Lancet Neurol (2011) 2.36
Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex I. Cell Metab (2010) 2.21
Mitochondrial translation and beyond: processes implicated in combined oxidative phosphorylation deficiencies. J Biomed Biotechnol (2010) 2.01
Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome. Am J Hum Genet (2012) 1.93
Human mitochondrial complex I assembles through the combination of evolutionary conserved modules: a framework to interpret complex I deficiencies. Hum Mol Genet (2004) 1.78
IDH2 mutations in patients with D-2-hydroxyglutaric aciduria. Science (2010) 1.63
Electrophoresis techniques to investigate defects in oxidative phosphorylation. Methods (2008) 1.63
Cardiolipin and monolysocardiolipin analysis in fibroblasts, lymphocytes, and tissues using high-performance liquid chromatography-mass spectrometry as a diagnostic test for Barth syndrome. Anal Biochem (2009) 1.56
Clonal expansion of mutated mitochondrial DNA is associated with tumor formation and complex I deficiency in the benign renal oncocytoma. Hum Mol Genet (2007) 1.27
New treatments for mitochondrial disease-no time to drop our standards. Nat Rev Neurol (2013) 1.26
Application of a ketogenic diet in children with autistic behavior: pilot study. J Child Neurol (2003) 1.19
Defective protein glycosylation in patients with cutis laxa syndrome. Eur J Hum Genet (2005) 1.14
Long-term functional sequelae of sacrococcygeal teratoma: a national study in The Netherlands. J Pediatr Surg (2007) 1.11
Mitochondrial complex III stabilizes complex I in the absence of NDUFS4 to provide partial activity. Hum Mol Genet (2011) 1.11
CIA30 complex I assembly factor: a candidate for human complex I deficiency? Hum Genet (2002) 1.11
Metallothionein isoform 2A expression is inducible and protects against ROS-mediated cell death in rotenone-treated HeLa cells. Biochem J (2006) 1.08
Complex I assembly: a puzzling problem. Curr Opin Neurol (2004) 1.06
What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr? Brain (2012) 1.01
Functional consequences of mitochondrial tRNA Trp and tRNA Arg mutations causing combined OXPHOS defects. Eur J Hum Genet (2009) 1.01
Succinate in dystrophic white matter: a proton magnetic resonance spectroscopy finding characteristic for complex II deficiency. Ann Neurol (2002) 1.00
NOA1 is an essential GTPase required for mitochondrial protein synthesis. Mol Biol Cell (2010) 1.00
Congenital hypertrophic cardiomyopathy, cataract, mitochondrial myopathy and defective oxidative phosphorylation in two siblings with Sengers-like syndrome. Eur J Pediatr (2004) 0.98
Dietary intervention and oxidative phosphorylation capacity. J Inherit Metab Dis (2006) 0.95
Variable clinical presentation of lysosomal beta-mannosidosis in patients with null mutations. Mol Genet Metab (2002) 0.94
Septo-optic dysplasia associated with a new mitochondrial cytochrome b mutation. Ann Neurol (2002) 0.93
Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation. Eur J Pediatr (2003) 0.91
Cardiac diverticulum and omphalocele: Cantrell's pentalogy or syndrome. Cardiol Young (2002) 0.90
Clinical and biochemical characteristics in patients with a high mutant load of the mitochondrial T8993G/C mutations. Am J Med Genet A (2006) 0.90
Mitochondrial dysfunction in Stüve-Wiedemann syndrome in a patient carrying an ND1 gene mutation. Am J Med Genet A (2006) 0.88
Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene. Ann Neurol (2007) 0.84
Leigh syndrome associated with mitochondrial complex I deficiency due to novel mutations In NDUFV1 and NDUFS2. Gene (2012) 0.80
Mitochondrial dysfunction in Brooks-Wisniewski-Brown syndrome. Am J Med Genet A (2006) 0.78
Resting muscle pain as the first clinical symptom in children carrying the MTTK A8344G mutation. Eur J Paediatr Neurol (2007) 0.78
Unusual features of mitochondrial degeneration in skeletal muscle of patients with nuclear complex I mutation. Acta Neuropathol (2005) 0.77
Metabolic manipulators: a well founded strategy to combat mitochondrial dysfunction. J Inherit Metab Dis (2010) 0.76
Normal serum alanine concentration differentiates transient neonatal lactic acidemia from an inborn error of energy metabolism. Biol Neonate (2006) 0.76
A simplified approach to vertical infraclavicular brachial plexus blockade using hand-held Doppler. Anesth Analg (2008) 0.76
Mitochondrial medicine. J Inherit Metab Dis (2011) 0.76
New nuclear encoded mitochondrial mutation illustrates pitfalls in prenatal diagnosis by biochemical methods. Clin Chem (2002) 0.75
Problems of adults with a mitochondrial disease - the patients' perspective: focus on loss. JIMD Rep (2012) 0.75
Recurrent rhabdomyolysis in a patient with oculocutaneous albinism type 1 and platelet storage-pool deficiency. Am J Med Genet A (2008) 0.75
Development of subdural effusions in association with pyruvate dehydrogenase deficiency. Eur Radiol (2005) 0.75
Morphometric analysis of the lung vasculature after extracorporeal membrane oxygenation treatment for pulmonary hypertension in newborns. Virchows Arch (2004) 0.75
Mitochondrial disease-the ever-widening circle. Biochim Biophys Acta (2009) 0.75