Browse Items (9 total)
- Tags: DNA
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 Scoping Review Results, Rodenburg R, Smeitink JA, van de Glind G
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 Scoping Review Results, Retrospective Studies, Robinson BH, Robitaille Y, Severity Of Illness Index, Shoubridge EA, Survival Analysis, Time Factors
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 Scoping Review Results, Sequence Deletion, Slovakia, Sykut-Cegielska J, Tesarova M, Vesela K, Zeman J
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
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 Scoping Review Results, Skeletal/pathology, Wei YH
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
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
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 Scoping Review Results, Rectum/innervation/pathology, Rivkin M, Teitelbaum JE, The American Journal Of Surgical Pathology