Browse Items (9 total)
- Tags: DNA
Clinical phenotype, prognosis and mitochondrial DNA mutation load in mitochondrial encephalomyopathies
Tags: 2002, Adolescent, Adult, Backlog, Child, Chu CC, DNA, Female, Huang CC, Humans, Journal Article, Journal Of Biomedical Science, Kuo HC, Liou CW, Ma YS, Male, Mitochondrial Encephalomyopathies/diagnosis/etiology/genetics, Mitochondrial/genetics, Muscle, Mutation, Prognosis, Q3 Literature Search, Skeletal/pathology, Wei YH
Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease
Tags: 2004, Adolescent, Age of Onset, Backlog, Belmont JW, Cardiomyopathies/etiology/mortality, Child, Craigen WJ, DNA, Electron Transport, Electron Transport Chain Complex Proteins/deficiency, Female, Fernbach SD, Humans, Hunter JV, Infant, Journal Article, Male, Mitochondrial, Mitochondrial Diseases/complications/genetics/mortality, Mutation, Neish SR, Neuromuscular Diseases/etiology/mortality, Newborn, Non-U.S. Gov't, Pediatrics, Preschool, Research Support, Retrospective Studies, Scaglia F, Smith EO, Survival Analysis, Towbin JA, Vladutiu GD, Vogel H, Ware SM, Wong LJ
Long-term outcome and clinical spectrum of 73 pediatric patients with mitochondrial diseases
Tags: 2007, AIM, Backlog, Cause Of Death, Chevalier I, Child, Cohort Studies, Debray FG, Decarie JC, DNA, DNA Fragmentation, Female, Follow-up Studies, HEREDITARY, Humans, IM, Infant, Journal Article, Lambert M, Leber/di [Diagnosis], Leber/ge [Genetics], Leber/mo [Mortality], Longitudinal Studies, Male, MELAS Syndrome/di [Diagnosis], MELAS Syndrome/mo [Mortality], MELAS Syndrome/th [Therapy], Mitchell GA, Mitochondrial Diseases/di [Diagnosis], Mitochondrial Diseases/ge [Genetics], Mitochondrial Diseases/mo [Mortality], Mitochondrial Encephalomyopathies/di [Diagnosis], Mitochondrial Encephalomyopathies/mo [Mortality], Mitochondrial Encephalomyopathies/th [therapy], Mitochondrial Myopathies/di [Diagnosis], Mitochondrial Myopathies/ge [Genetics], Mitochondrial Myopathies/mo [Mortality], Mitochondrial/ge [Genetics], Newborn, Optic Atrophy, Pediatrics, Preschool, Probability, Proportional Hazards Models, Q3 Literature Search, Retrospective Studies, Robinson BH, Robitaille Y, Severity Of Illness Index, Shoubridge EA, Survival Analysis, Time Factors
Mitochondrial disorders
Tags: 2004, Adult, Backlog, Brain, Child, Di Donato S, DNA, DNA/genetics, Electron Transport/genetics, Gene Rearrangement/genetics, Humans, Journal Article, Mitochondrial Diseases/genetics/therapy, Mitochondrial/genetics, Mutation, Oxidative Phosphorylation, Point Mutation/genetics, Proteins/genetics, Zeviani M
Mitochondrial neurogastrointestinal encephalomyopathy: diagnosis by rectal biopsy
Tags: 1998, Adolescent, Anthony DA, Backlog, Biopsy/methods, Cox GF, DNA, Electron, Fadic R, Female, Fox V, Humans, Intestinal Pseudo-Obstruction/pathology, Johns DR, Journal Article, Kalsner L, Microscopy, Mitochondrial Myopathies/pathology, Mitochondrial/analysis, Muscles/pathology, Perez-Atayde AR, Q3 Literature Search, Rectum/innervation/pathology, Rivkin M, Teitelbaum JE, The American Journal Of Surgical Pathology
Prevalence and progression of mitochondrial diseases: a study of 50 patients
Tags: 2003, Adolescent, Adult, Age of Onset, Aged, Arenas J, Arpa J, Arpa-Fernandez A, Backlog, Campos Y, Chronic Progressive External/ep [Epidemiology], Chronic Progressive External/ge [Genetics], Chronic Progressive External/pa [Pathology], Cruz-Martinez A, Del Hoyo P, Disease Progression, DNA, Electromyography, Epilepsies, Female, Garcia-Rio F, Gutierrez-Molina M, Humans, IM, Journal Article, Lactic Acid/bl [Blood], Male, Martin MA, MELAS Syndrome/ep [Epidemiology], MELAS Syndrome/ge [Genetics], MELAS Syndrome/pa [Pathology], Middle Aged, Mitochondrial Diseases/ep [Epidemiology], Mitochondrial Diseases/ge [Genetics], Mitochondrial Diseases/pa [Pathology], Mitochondrial/ge [Genetics], Muscle, Muscle & Nerve, Myoclonic/ep [Epidemiology], Myoclonic/ge [Genetics], Myoclonic/pa [Pathology], Neural Conduction/ph [Physiology], Ophthalmoplegia, Perez-Conde C, Phenotype, Rubio JC, Skeletal/pa [Pathology], Spain/ep [Epidemiology], Survival Analysis
Resting muscle pain as the first clinical symptom in children carrying the MTTK A8344G mutation
Tags: 2007, Adolescent, Adult, Backlog, Child, de Vries M, DNA, DNA Mutational Analysis, European Journal of Paediatric Neurology, Female, Hol F, Humans, Journal Article, MERRF Syndrome/complications/genetics/physiopathology, Mitochondrial/genetics, Morava E, Muscular Diseases/etiology/genetics/physiopathology, Mutation, Pain/etiology/genetics/physiopathology, Pedigree, Polymerase Chain Reaction, Q3 Literature Search, Rodenburg R, Smeitink JA, van de Glind G
Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency
Tags: 2006, Adolescent, Backlog, Bohm M, Carrier Proteins, Child, Cytochrome-c Oxidase Deficiency/diagnosis/genetics/mortality, Czech Republic, DNA, Female, Hansikova H, Houstek J, Houstkova H, Humans, Infant, Journal Article, Karczmarewicz E, Male, Membrane Proteins, Mierzewska H, Mitochondrial Proteins, Mitochondrial/genetics, Mutation, Newborn, Pediatric Research, Piekutowska-Abramczuk D, Poland, Preschool, Prognosis, Pronicka E, Pronicki M, Proteins/genetics, Q3 Literature Search, Sequence Deletion, Slovakia, Sykut-Cegielska J, Tesarova M, Vesela K, Zeman J