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473001 to 473100 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Neurologic considerations in propionic acidemia.
Overexpression of adapted U1snRNA in patients' cells to correct a 5' splice site mutation in propionic acidemia.
Mutation analysis in 54 propionic acidemia patients.
N-carbamylglutamate for neonatal hyperammonaemia in propionic acidaemia.
Feasibility of nonsense mutation readthrough as a novel therapeutical approach in propionic acidemia.
Changes in plasma amino acid concentrations with increasing age in patients with propionic acidemia.
Cardiomyopathies in propionic aciduria are reversible after liver transplantation.
Acute management of propionic acidemia.
Left ventricular noncompaction and athletes: looking for stratification criteria.
Natural history of propionic acidemia.
N-carbamylglutamate in emergency management of hyperammonemia in neonatal acute onset propionic and methylmalonic aciduria.
Exon 3 deletion of RYR2 encoding cardiac ryanodine receptor is associated with left ventricular non-compaction.
MR spectroscopy-based brain metabolite profiling in propionic acidaemia: metabolic changes in the basal ganglia during acute decompensation and effect of liver transplantation.
Cardiac segmental analysis in left ventricular noncompaction: experience in a pediatric population.
Left ventricular noncompaction is associated with mutations in the mitochondrial genome.
Fatal heart failure associated with CoQ10 and multiple OXPHOS deficiency in a child with propionic acidemia.
Isolated left ventricular noncompaction in sub-Saharan Africa: a clinical and echocardiographic perspective.
Chronic management and health supervision of individuals with propionic acidemia.
Short-term rescue of neonatal lethality in a mouse model of propionic acidemia by gene therapy.
A de novo mutation in NKX2.5 associated with atrial septal defects, ventricular noncompaction, syncope and sudden death.
N-carbamylglutamate augments ureagenesis and reduces ammonia and glutamine in propionic acidemia.
Biochemical efficacy of N-carbamylglutamate in neonatal severe hyperammonaemia due to propionic acidaemia.
Severe familial left ventricular non-compaction cardiomyopathy due to a novel troponin T (TNNT2) mutation.
Adeno-associated virus serotype 8 gene transfer rescues a neonatal lethal murine model of propionic acidemia.
Photophobia, Retroorbital Pain, Vomiting
MR imaging features of ventricular noncompaction: emphasis on distribution and pattern of fibrosis.
Propionic and methylmalonic acidemia: antisense therapeutics for intronic variations causing aberrantly spliced messenger RNA.
Crystal structure of the alpha(6)beta(6) holoenzyme of propionyl-coenzyme A carboxylase.
Mortality and sudden death in pediatric left ventricular noncompaction in a tertiary referral center.
Left ventricular noncompaction.
Left ventricular non-compaction: genetic heterogeneity, diagnosis and clinical course.
Left ventricular non-compaction: clinical features and cardiovascular magnetic resonance imaging.
Assessment of left ventricular non-compaction in adults: side-by-side comparison of cardiac magnetic resonance imaging with echocardiography.
Regional thicknesses and thickening of compacted and trabeculated myocardial layers of the normal left ventricle studied by cardiovascular magnetic resonance.
Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy.
Left ventricular non-compaction revisited: a distinct phenotype with genetic heterogeneity?
Measurement of trabeculated left ventricular mass using cardiac magnetic resonance imaging in the diagnosis of left ventricular non-compaction.
A calcium signaling defect in the pathogenesis of a mitochondrial DNA inherited oxidative phosphorylation deficiency.
The mitochondrial DNA transfer RNA(Lys)A-->G(8344) mutation and the syndrome of myoclonic epilepsy with ragged red fibres (MERRF). Relationship of clinical phenotype to proportion of mutant mitochondrial DNA.
Defect in modification at the anticodon wobble nucleotide of mitochondrial tRNA(Lys) with the MERRF encephalomyopathy pathogenic mutation.
Complementation and segregation behavior of disease-causing mitochondrial DNA mutations in cellular model systems.
Altered mitochondrial function in fibroblasts containing MELAS or MERRF mitochondrial DNA mutations.
Search for differences in post-transcriptional modification patterns of mitochondrial DNA-encoded wild-type and mutant human tRNALys and tRNALeu(UUR).
Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA(Leu(UUR)) gene an etiologic hot spot?
Nuclear DNA-encoded tRNAs targeted into mitochondria can rescue a mitochondrial DNA mutation associated with the MERRF syndrome in cultured human cells.
Mammalian mitochondria have the innate ability to import tRNAs by a mechanism distinct from protein import.
Selective inhibition of mutant human mitochondrial DNA replication in vitro by peptide nucleic acids.
Cytochemistry and immunocytochemistry of mitochondria in tissue sections.
MtDNA mutation in MERRF syndrome causes defective aminoacylation of tRNA(Lys) and premature translation termination.
Reorganization of cortical representations of the hand following alterations of skin inputs induced by nerve injury, skin island transfers, and experience.
Mutation of the Na-K-Cl co-transporter gene Slc12a2 results in deafness in mice.
Synpolydactyly in mice with a targeted deficiency in the HoxD complex.
Abnormal development of the apical ectodermal ridge and polysyndactyly in Megf7-deficient mice.
Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome.
Hypomorphic expression of Dkk1 in the doubleridge mouse: dose dependence and compensatory interactions with Lrp6.
Gene mutations and genomic rearrangements in the mouse as a result of transposon mobilization from chromosomal concatemers.
Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2.
The genetic mapping of a defective LPS response gene in C3H/HeJ mice.
Regulation of limb patterning by extracellular microfibrils.
Using iPSC-derived neurons to uncover cellular phenotypes associated with Timothy syndrome.
Roles for laminin in embryogenesis: exencephaly, syndactyly, and placentopathy in mice lacking the laminin alpha5 chain.
GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families.
Using induced pluripotent stem cells to investigate cardiac phenotypes in Timothy syndrome.
A mouse model of greig cephalopolysyndactyly syndrome: the extra-toesJ mutation contains an intragenic deletion of the Gli3 gene.
Topiramate in venlafaxine-induced visual hallucinations in an obese patient with a posterior cerebral artery infarction.
Stroke location is not associated with return to work after first ischemic stroke.
Pre-saccadic perceptual facilitation can occur without covert orienting of attention.
Eye-movement training-induced plasticity in patients with post-stroke hemianopia.
DTI reveals network injury in perinatal stroke.
Assessment of paramedian thalamic infarcts: MR imaging, clinical features and prognosis.
Letter-by-letter reading: natural recovery and response to treatment.
Eyelid Colobomata, Ventricular Septal Defect
Associations of clinical stroke misclassification ('clinical-imaging dissociation') in acute ischemic stroke.
The hyperdense posterior cerebral artery sign: a computed tomography marker of acute ischemia in the posterior cerebral artery territory.
Inducing letter-by-letter dyslexia in normal readers.
Face imagery and its relation to perception and covert recognition in prosopagnosia.
Posterior circulation ischemia: then, now, and tomorrow. The Thomas Willis Lecture-2000.
Causal visual interactions as revealed by an information theoretic measure and fMRI.
Basilar artery occlusive disease in the New England Medical Center Posterior Circulation Registry.
Accuracy of dynamic perfusion CT with deconvolution in detecting acute hemispheric stroke.
A human extrastriate area functionally homologous to macaque V4.
Developmental pattern of splenic dysfunction in sickle cell disorders.
The paradox of hemoglobin SC disease.
Pulse oximetry and factors associated with hemoglobin oxygen desaturation in children with sickle cell disease.
Antiphospholipid antibodies, proteins C and S, and coagulation changes in sickle cell disease.
High-dose intravenous methylprednisolone therapy for pain in children and adolescents with sickle cell disease.
A multiparameter analysis of sickle erythrocytes in patients undergoing hydroxyurea therapy.
Differing effects of HbS and HbC traits on uncomplicated falciparum malaria, anemia, and child growth.
Human parvovirus B19-induced epidemic acute red cell aplasia in patients with hereditary hemolytic anemia.
Prevalence and reversibility of lower airway obstruction in children with sickle cell disease.
Influence of sickle hemoglobinopathies on growth and development.
Elevated immunoreactive tumor necrosis factor and interleukin-1 in sickle cell disease.
Psychological therapies for the management of chronic and recurrent pain in children and adolescents.
Natural history of blood pressure in sickle cell disease: risks for stroke and death associated with relative hypertension in sickle cell anemia.
Chronic renal failure in sickle cell disease: risk factors, clinical course, and mortality.