about
Mutation of Nogo-B receptor, a subunit of cis-prenyltransferase, causes a congenital disorder of glycosylationTMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathyDCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signalingProposed guidelines for the diagnosis and management of methylmalonic and propionic acidemiaThe International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disordersDevelopment of a human mitochondrial oligonucleotide microarray (h-MitoArray) and gene expression analysis of fibroblast cell lines from 13 patients with isolated F1Fo ATP synthase deficiency.Two patients with clinically distinct manifestation of pyruvate dehydrogenase deficiency due to mutations in PDHA1 gene.Sebelipase alfa over 52 weeks reduces serum transaminases, liver volume and improves serum lipids in patients with lysosomal acid lipase deficiency.Vascular presentation of cystathionine beta-synthase deficiency in adulthood.A new case of ALG8 deficiency (CDG Ih).Large copy number variations in combination with point mutations in the TYMP and SCO2 genes found in two patients with mitochondrial disorders.Clinical manifestation of mitochondrial diseases.Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature.Clinical presentation and metabolic consequences in 40 breastfed infants with nutritional vitamin B12 deficiency--what have we learned?Lipoprotein lipase deficiency: clinical, biochemical and molecular characteristics in three patients with novel mutations in the LPL gene.Lethal fetal and early neonatal presentation of adenylosuccinate lyase deficiency: observation of 6 patients in 4 families.Recessive ITPA mutations cause an early infantile encephalopathy.The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.TMEM70 deficiency: long-term outcome of 48 patients.Glycogen storage disease-like phenotype with central nervous system involvement in a PGM1-CDG patient.Different laboratory and muscle biopsy findings in a family with an m.8851T>C mutation in the mitochondrial MTATP6 gene.Novel mutations in the tyrosine hydroxylase gene in the first Czech patient with tyrosine hydroxylase deficiency.Hyperammonemic crisis in a child with ATP synthase deficiency caused by mtDNA mutation m.8851T>C[Clinical, biochemical and molecular characteristics in 11 Czech children with tyrosinemia type I].Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation.Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic.Prolonged impairment of polymorphonuclear cells functions in one infant with transient zinc deficiency: a case report.Novel mutations in the TAZ gene in patients with Barth syndrome.Specific properties of heavy fraction of mitochondria from human-term placenta - glycerophosphate-dependent hydrogen peroxide production.Carnitine concentrations in term and preterm newborns at birth and during the first days of life.Polarographic evaluation of mitochondrial enzymes activity in isolated mitochondria and in permeabilized human muscle cells with inherited mitochondrial defects.OPA1 analysis in an international series of probands with bilateral optic atrophy.Non-invasive screening of cytochrome c oxidase deficiency in children using a dipstick immunocapture assay.Unique presentation of LHON/MELAS overlap syndrome caused by m.13046T>C in MTND5.The phenotypic spectrum of fifty Czech m.3243A>G carriers.RFT1-CDG in adult siblings with novel mutations.Activities of respiratory chain complexes and pyruvate dehydrogenase in isolated muscle mitochondria in premature neonates.Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency.Elevated CSF-lactate is a reliable marker of mitochondrial disorders in children even after brief seizures.The developmental changes in mitochondrial DNA content per cell in human cord blood leukocytes during gestation.
P50
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P50
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Tomáš Honzík
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P1053
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